Webbed neck pectus excavatum. The causes of pectus excavatum aren’t completely .

Webbed neck pectus excavatum. Most people with Noonan syndrome have some form of critical congenital heart disease. Apr 16, 2025 · intellectual disability microgenia low neck hairline cervicothoracic pterigium colli: webbed neck winged scapulae pectus excavatum pectus carinatum cardiopulmonary pulmonary stenosis (with dysplastic pulmonary valve): most common cardiac anomaly 3 hypertrophic cardiomyopathy 3,4: thought to affect ~20% of individuals 3 patent ductus arteriosus Symptoms include: Delayed puberty Down-slanting or widely-spaced eyes Hearing loss (varies) Low-set or abnormally shaped ears Mild intellectual disability (only in about 25% of cases) Sagging eyelids (ptosis) Short stature Small penis Undescended testicles Unusual chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Aug 21, 2019 · Approximately 70 percent of affected children have a distinctive chest malformation characterized by abnormal protrusion of the upper (superior) portion of the breastbone (sternum) and/or abnormal depression of the lower (inferior) portion of the breastbone (pectus carinatum and/or pectus excavatum, respectively). Dec 1, 2021 · Pectus excavatum (PE) could be part of a genetic disorder, which then has implications regarding comorbidity, the surgical correction of PE, and reproductive choices. The shoulders are often rounded with scapula alata. , 2014]. The objective of this study is to test if early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. A deep depression of the sternum and elevation and inward rotation of the costal cartilages on the right side were consistent with severe combined Pectus excavatum is a condition in which the breast bone (sternum) appears sunken and the chest concave. Distinctive dysmorphic features include bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and pectus Turner's syndrome is characterized by a female phenotype with short stature, webbed neck, ovar ian dysgenesis, cubitus valgus, and congenital heart disease (CH 0). Chest wall deformities such as pectus excavatum, pectus carinatum, and cleft sternum can be isolated malformations or dysmorphic features of genetic associations, monogenic disorders, and various numeric and structural chromosomal aberrations. Pectus excavatum is where the sternum and ribs develop abnormally, causing the sternum to drop inward toward the spine and produce a caved in or sunken appearance of the chest. Nov 24, 2020 · Pectus excavatum (PE) is the most common congenital chest wall deformity with an estimated prevalence of 1 in 300–1000 live births [1, 2]. 2APronounced webbed neck is seen. INTRODUCTION Cafe-au-lait spots (CALS), also called cafe-au-lait macules, are uniformly pigmented light to dark brown spots on the skin that may be present at birth or develop in childhood 1 . Mar 28, 2019 · Pectus excavatum causes the chest to appear sunken. She has features of acrocephaly, prominent forehead, hypertelorism, proptosis, broad nasal root, webbed neck, pectus excavatum, cutaneous syndactyly of both hands, total syndactyly of Feb 1, 1981 · Common features in Noonan and Turner syndrome:short stature, epicanthic folds, ptosis, low set or malformed ears, webbed neck, low posterior hairline, highly arched palate, cubitus valgus. INHERITANCE - Autosomal dominant HEAD & NECK Face - Micrognathia Mouth - Pierre Robin-type cleft palate Neck - Webbed neck CHEST Ribs Sternum Clavicles & Scapulae - Pectus excavatum - Rib anomalies - Hypoplastic distal segments of scapulae SKELETAL - Joint hyperextensibility SKIN, NAILS, & HAIR Hair - Low-set hairline NEUROLOGIC Central Nervous System - Hypotonia Creation Date: John F. “Classic” Turner Syndrome results from a complete loss of an X chromosome in all cells (karyotype 45,X). Such a syndrome is often described by patients or their family as 'poor A cohort study has shown that all patients with CFNS have hypertelorism, a certain degree of longitudinal ridging and/or splitting of nails, webbed neck, clinodactyly of one or more toes, and abnormal facial proportions [van den Elzen et al. The karyotype is normal - Noonan 44% 14 What age did Jacob develop Pectus Excavatum PLAY Jacob Clarke 44% MARFAN Tall with a long wing span Pectus excavatum PLAY Connective Tissue KIO 44% NOONAN SYNDROME Webbed neck, Short, Pectus excavatum, Pulmonary stenosis (AKA 'Male Turners') PLAY Genetic Syndromes 44% EXCURSION FUNNEL Movement Funnel Technology PLAY Portal/2/Aperture Sep 5, 2021 · Pectus excavatum is the most common congenital deformity of the chest wall. Explore more crossword clues and answers by clicking on the results or quizzes. Jackson Jan 1, 2022 · Download: Download full-size image Fig. It is characterized by anomalous growth of several ribs and the sternum, which gives the chest a sunken appearance [1, 2]. In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. The facial features associated with Noonan syndrome change with age (table 1, figure 2). It is characterized by a wide range of symptoms, including short stature, webbed neck, pectus excavatum, congenital heart defects, low-set ears, hypertelorism, widely spaced eyes, hearing loss, bleeding disorders, and developmental delays. Jun 5, 2025 · Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity Characteristic chest deformities consist of pectus carinatum superiorly and pectus excavatum inferiorly. Patient at the age of 13 years old. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Jan 1, 2014 · It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity, variable degree of developmental delay, cryptorchidism, increased bleeding tendency, A baby born with Noonan syndrome may have a short neck, with excess skin where the neck joins the shoulders. Jan 14, 2007 · Characteristic chest deformities consist of pectus carinatum superiorly and pectus excavatum inferiorly. Radiographs showed 11 pairs of ribs, hypoplasia of the subscapular areas, and a dysplastic right third rib. The severity of the presentation can vary from mild to severe and is characterized by a distinctive facial appearance, short stature, bleeding dyscrasias, cardiac issues, skeletal malformations, renal anomalies, lymphatic malformations, and other Individuals with Noonan syndrome often have either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Unlike isolated pectus excavatum or carinatum, Poland's syndrome and other similar but rarer syndromes are caused not by overgrowth of the costal cartilages Noonan Syndrome 14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. The thorax is broad and the internipple distance is large. A Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea. Com on features in Noonan and Turner syndm- mershort stature, epicanthic folds, ptosis, low set or malfor- med ears, webbed neck, low posterior hairline, highly arched palate, cubitus v Pectus Posture Both pectus excavatum and carinatum are associated with other skeletal problems and what can be regarded as a 'pectus syndrome', a cluster of symptoms and signs that occur together and characterize a condition, or simply referred as ‘Pectus Posture”. The features of this condition may include Pierre Robin-type cleft palate, pectus excavatum, rib anomalies, and hypoplasia of the distal segments of the scapulae. They usually appear as light brown in light-skinned people and medium to dark brown in dark-skinned people. Usually, exclusion of an underlying syndromal or connective tissue disorder is the reason for referral for genetic evaluation. Other variations exist including a “ring” X chromosome, missing only a part of an X chromosome, or mosaicism in which some cells may have two copies of the X Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay. What genetic disorder causes webbed neck? On physical examination, dysmorphic features consistent with Noonan syndrome were present, namely, plagiocephaly, broad forehead, hypertelorism, small nasal bridge, palpebral ptosis, low-set and posteriorly rotated ears, and shorted webbed neck. Child or Teen Curly, wool-like hair Wide forehead Small chin Webbed Neck Wide-spaced nipples Pectus Excavatum or pectus carnitum (inferior Sternum depressed) Cubitus valgus (Forearm laterally deviated) Head in shape of an inverted triangle Signs Adult High anterior hairline Head in shape of an inverted triangle Nasolabial folds prominent 43%. It also is possible to have pectus carinatum, where the breastbone and ribs grow outward, making the chest stick out more than usual. Sep 3, 2022 · Can you die from pectus excavatum? There’s no clear evidence that pectus excavatum can shorten your lifespan. Some affected people may also have an abnormal side-to-side curvature of the spine (scoliosis). [2] Jun 29, 2021 · Written on 29/06/2021 , Last updated 14/10/2021 Oct 3, 2017 · A subset of patients with NF-1 appears to manifest overlap in clinical features with Noonan syndrome, including pulmonary valve stenosis, “Noonan” facies, and pectus excavatum; these patients have been shown to manifest NF1 mutations. PE accounts for >90% of congenital chest wall deformities. But even mild pectus excavatum that causes a slight dip in the breastbone can make children feel self-conscious about their bodies. 1,2 The Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Only one-fifth of PE cases are identified in the first decade of life and thus are of congenital origin. This can make the neck seem broad and is sometimes called "webbing. 14,64 Webbed neck, Low hairline on the back of the neck What are 6 abnormalities that become apparent during childhood and adolescence? Short, Broad sheild shaped chest, Widely spaced nipples, Slight/Absent breast development, Absent/Reduced pubic hair, No axillary hair Aug 1, 2007 · Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus. Noonan syndrome (NS) is a rare autosomal dominant condition or a genetic mutation present from birth, that causes a distinctive appearance and a range of health problems [1]. Noonan's syndrome is associated with short stature, mild mental retardation, epicanthal folds, low set ears, low posterior hairline, webbed neck, shield chest, scoliosis, pectus excavatum, cubitus valgus and a variety of anomalies of the cardiovascular system. Short neck, often with extra folds of skin, called a webbed neck. Patients display developmental delay, impaired intellectual development, and short stature. Mild cases can happen in early childhood, but in most cases, PC is only noticed when children have their growth spurts at puberty. At 20 years of age the patient had an out-of-hospital cardiac arrest due to ventricular fibrillation in the context of cannabis use. This article will delve into each of these symptoms and provide valuable Noonan’s syndrome is associated mental retardation, epicanthal low posterior hairline, webbed osis, pectus excavatum, cubitus anomalies of the cardiovascular with Noonan’s syndrome, Neck - Short neck - Webbed neck CARDIOVASCULAR Heart - Pulmonary valve stenosis - Aortic insufficiency, mild - Mitral valve prolapse - Interventricular septal hypertrophy (asymmetric or focal) - Hypertrophic cardiomyopathy (in 1 patient) CHEST External Features - Pectus excavatum - Pectus carinatum - Widely spaced nipples SKELETAL - Joint Aug 2, 2025 · Noonan syndrome is a genetically inherited disorder with heterogeneous phenotypic manifestations that can affect multiple organ systems. Diagnostic criteria developed by van der Burgt in 1997 is below: Jun 8, 2017 · The Noonan syndrome describes a common autosomal dominant inherited dysmorphology which is characterized by congenital heart defects (such as cardiomyopathy, atrial septal defect and pulmonary valve stenosis), a broad or webbed neck, a pectus deformity with cranial PC and caudal PE, short stature later in life with normal measurements at birth, facial dysmorphism involving ptosis Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Apr 30, 2009 · The maternal grandmother of the propositus had micrognathia with intact palate, webbed neck with low-set hairline, hypoplastic scapulae, severe pectus excavatum, and no joint hyperextensibility. The etiology of PE is not fully understood and a direct genetic link has yet to be found [3, 4]. 1 Skeletal abnormalities and malfor mations of the chest m·e known features of Turner's syndrome and include a trapezoidal chest (shield chest deformity), enlarged shoulders, mild pectus excavatum, and wide-spaced nipples. Where did the name Noonan syndrome come from? Pierre robin sequence with pectus excavatum and rib and scapular anomalies is a condition with autosomal dominant inheritance. Definition NS Typical webbed neck, structural curve with rib deformity. Webbed neck, pectus excavatum, short stature, pulmonary stenosis - Most likely syndrome? on MedShr Background: Noonan syndrome is often described as a “Male Turner syndrome” presenting with pterygium colli, short stature, pectus excavatum, webbed neck, down-slanting palpebral fissures and eyelid ptosis, and congenital heart disease (most commonly, pulmonary artery valvular stenosis). " Neck: Webbed or broad neck. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. 1 Skeletal abnormalities and malformations of the chest are known features of Turner's syndrome and include a trapezoidal chest (shieldchest deformity), enlarged shoulders, mild pectus excavatum, and wide-spaced nipples. May 25, 2023 · A condition called pectus excavatum, where the breastbone and ribs sink too far into the chest. Child has low-set ears, wide space nipples, webbed neck, short stature&pectus excavatum-DX? on MedShr What are common physical findings of a patient with Turner Syndrome? Short Stature Broad chest with widely spaced nipples Webbed neck Cardiac anomalies Low nuchal hairline Hearing deficit Edema of hands and feet Dysplastic nails Some Broad's Want C*nt Licking Happenin Every Day What do Bone Age Studies do? Why is it used in cases of Turner Abstract Background Potential underlying genetic variations of pectus excavatum (PE) are quite rare. [5] Noonan syndrome is a condition usually involving a heart problem found at birth, short stature, a broad or webbed neck, pectus excavatum and pectus carinatum (chest deformities), as well as a range of developmental delays. While exercise might seem daunting, it can both relieve symptoms and improve appearance. Nov 15, 2001 · Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. The causes of pectus excavatum aren’t completely Synopsis short stature webbed neck pectus excavatum cubitus valgus pulmonary valve stenosis patent foramen ovale characteristic face appearance cryptorchidism short stature (postnatal onset) failure to thrive in infancy specific growth curves are available triangular face with age low-set ears posteriorly rotated ears nerve deafness ptosis What is pectus carinatum (PC)? Pectus carinatum (PC) is also known as raised chest or pigeon chest. Although birth length is Some common issues can include: An unusually shaped chest often with a sunken sternum (pectus excavatum) or raised sternum (pectus carinatum) Wide-set nipples Short neck, often with extra folds of skin (webbed neck) or prominent neck muscles (trapezius) Deformities of the spine Other less common characteristics of Noonan syndrome can include: Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. These sternal abnormalities are present in 70%–95% of cases. Nipples that are wide apart. Some features however, such as the pronounced webbed neck with a low posterior hairline and a pectus excavatum are features of NS, but have not previously been described in patients with ATS. What is Turner Syndrome? Turner Syndrome results from a chromosomal abnormality in children who are assigned female at birth. These mutations lead to the loss of regulation of cell growth and division. About 15% of patients develop thoracic scoliosis. The father and a sister of the boy were also found with mild webbed neck, being possibly mildly affected Pectus excavatum is the most common chest wall deformity, occurring in about one in 500 children and accounting for more than 90% of congenital chest wall deformities. The size of the spots can vary from 1–2 mm up to >20 cm 2 . Terms in this set (39) A boy is noted to have a webbed neck and pectus excavatum. Materials and Methods A condition called pectus excavatum, where the breastbone and ribs sink too far into the chest. It is sometimes called funnel chest. However, referral of a patient presenting with PE for genetic analysis is often delayed because additional crucial clinical signs may be subtle or even missed in syndromic patients. Patients with this condition have a raised sternum (breastbone) and cartilage (connective tissue). Mild pectus excavatum can also occur (2, 51). A deep depression of the sternum and elevation and inward rotation of the costal cartilages on the right side were consistent with severe combined Turner's syndrome is characterized by a female phenotype with short stature, webbed neck, ovarian dysgenesis, cubitus valgus, and congenital heart disease (CHD). It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity, variable degree of developmental delay, cryptor-chidism, increased bleeding tendency, and characteristic facial features that evolve with age. Mar 1, 2007 · We report on a 16-year-old boy with Noonan syndrome who had short stature, hypertelorism, mild hearing loss, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, café au lait spot, curled hairs, foetal pads, and undescended testes. Severe cases can cause cardiopulmonary impairment and •Developmental delay •Broad or webbed neck •Unusual chest shape with superior pectus carinatum, inferior pectus excavatum •Widely set nipples •Cryptorchidism (descended testes) in males Speak to a genetic counselor or a medical geneticist to learn more about getting tested for Noonan syndrome. Although birth length is usually normal, final adult height approaches the lower limit of normal. If you have this condition, the chest wall pushes out as you grow. What is the most likely diagnosis? Pectus excavatum= Noonan (in boy) Noonan= male version of Turners syndrome A young boy is noted to have a webbed neck, pulmonary stenosis, ptosis and short stature. Dec 10, 2017 · Nails: Hypoplastic or hyperconvex nails Nevi: Excessive numbers of nevi, when compared to other family members Webbed neck: A broad neck and a low or indistinct hairline Cubitus valgus (increased carrying angle) Madelung deformities of the wrist Short fourth and fifth metacarpals and metatarsals Symptoms include delayed puberty, down-slanting or wide-set eyes, hearing loss (varies), low-set or abnormally shaped ears, mild intellectual disability in about 25% of cases, ptosis, short stature, small penis, undescended testicles, unusual chest shape (usually pectus excavatum), and a webbed and short-appearing neck. There are risks associated with surgical procedures to correct pectus excavatum so it’s important to be aware of these if you’re considering undergoing surgery to repair the condition. In contrast to the most important syndromes such as Marfan syndrome or Noonan syndrome that can be associated with a chest wall deformity and for which Pectus excavatum (PE) is a posterior depression of the sternum and adjacent costal cartilages and is frequently seen by primary care providers. Physical appearance and dental examination of the patient included acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudo-prognathism, dental crowding and ectopia, maxillary hypoplasia, low hairline, webbed neck, pectus excavatum and severe bilateral syndactyly of hands and feet. u The Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. For both pectus excavatum and carinatum the pathogenesis is largely unknown although various hypotheses exist. The facial features in ASS change with age, with hypertelorism becoming less obvious, the forehead becoming less prominent and the face becoming elongated. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndrome based on acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral Jul 26, 2025 · A 21-year-old lady is undergoing a second-trimester scan for her first pregnancy. Noonan syndrome is caused by mutations in the genes associated with the Ras/MAPK cell-signalling pathway, which is required for normal cell division, proliferation, differentiation and migration. The majority of these cases are not associated with any other condition (isolated findings). When the condition is serious, it can affect how well the heart and lungs work over time. A detailed anamnesis and family history are needed as well as a May 1, 2015 · On physical examination, dysmorphic features consistent with Noonan syndrome were present, namely, plagiocephaly, broad forehead, hypertelorism, small nasal bridge, palpebral ptosis, low-set and posteriorly rotated ears, and shorted webbed neck. One condition particularly associated with pectus is scoliosis, or abnormal curvature of the spine. Epidemiology It accounts for 90% of c Aug 1, 2014 · Pectus excavatum and carinatum are the most common morphological chest wall abnormalities. He was found to have a superior mesenteric artery aneurysm with thrombosis initially treated with anticoagulation. Mar 14, 2025 · The exact cause of pectus excavatum isn't clear. Less common skeletal issues can be found in Table 1 . This may be Noonan Syndrome is a genetic disorder that affects various parts of the body. 2C: shows a single palmar crease. Assomestudiesdidnot reportthe affected gene Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Current leading hypotheses are Feb 9, 2021 · The principal features of Noonan syndrome are short stature, characteristic facial appearance that changes with age, congenital heart defects, webbed or broad neck, pectus deformity and mild Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. We suggest two possible explanations: first, the patient might have two distinct diagnoses. . Some people with this condition may also have hypotonia, low-set hairline, low-set hairline, webbed neck Skeletal Neck Ears Stature Spine Thinupperlipvermilion 2 Short (webbed)neck 3 Low-set 6 Short stature 4 Marfanoid appearance 3 Scoliosis 7 Kyphosis Extremities Joint hypermobilityAND/OR Joint dislocations mul-tiple subtypes. At that time examination revealed soft and hyperextensible skin, atrophic scars (on shin and ankles), high palate, significant pectus excavatum, kyphoscoliosis, long fingers, long toes, and hypermobile joints. Noonan syndrome is a common genetic disorder with multiple congenital abnormalities. Two patients with Noonan's syndrome, congenital heart disease and systemic venous anomalies are presented, and 204 cases of Noonan's Most Pectus deformities are isolated and not associated with other medical conditions, though around 25% cases do run in families. Short stature, webbing of neck, pectus carinatum or pectus excavatum, hypertelorism cubitus valgus, epicanthus, downward slanted palpebral fissures, ptosis, microganthia and ear abnormalities are the common features of Noonan syndrome. 25 results for "webbed neck pectus excavatum short stature pulmonary stenosis gestalt diagnosis" Mar 29, 2025 · Pectus excavatum, also known as funnel chest or trichterbrust 13, is a congenital chest wall deformity characterized by concave depression of the sternum, resulting in cosmetic and radiographic alterations. Early diagnosis and treatment can ease symptoms. Noonan syndrome Noonan syndrome is an autosomal dominant disorder clinically characterized by a variety of features, which are variable expressed, and includes short stature, sternal deformity, facial dysmorphism, and/or a webbed neck, congenital heart defects, developmental delay, and bleeding diathesis. However, some genetic conditions include pectus excavatum. 2B: shows a low hairline and the pectus excavatum. Other key features of Noonan syndrome include congenital heart defects, superior pectus carinatum with inferior pectus excavatum, developmental delay, short stature, and lymphatic dysplasias. webbed neck pectus excavatum cubitus valgus pulmonary valve stenosis patent foramen ovale characteristic face appearance cryptorchidism short stature (postnatal onset) failure to thrive in infancy specific growth curves are available triangular face with age low-set ears posteriorly rotated ears nerve deafness ptosis hypertelorism down-slanting Physical appearance and dental examination of the patient included acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudo-prognathism, dental crowding and ectopia, maxillary hypoplasia, low hairline, webbed neck, pectus excavatum and severe bilateral syndactyly of hands and feet. A 6-year-old boy is noted to have pectus excavatum and pulmonary stenosis during a cardiorespiratory exam. Thorax: Sternal deformities including pectus carinatum involving the superior sternum and pectus excavatum involving the inferior sternum. The typical morphology of the hands (brachydactyly with interdigital webbing and joint laxity) also becomes less evident with age. Unilateral and bilateral cryptorchidism have been reported in about 80% of male patients (1, 2, 8). Features seen in NS Short stature Congenital heart defect often PVS Broad or webbed neck Unusual chest shape - pectus carinatum and or pectus excavatum apparently low-set nipples developmental delay to a variable degree Undescended testes-cryptorchidism (in boys) Noonan syndrome is characterized by short stature, congenital heart defects, broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, developmental delay of variable degree, cryptorchidism, and typical facies. In contrast to the most important syndromes such as Marfan syndrome or Noonan syndrome that can be associated with a chest wall deformity and for which For the word puzzle clue of webbed neck pectus excavatum short stature pulmonary stenosis gestalt diagnosis, the Sporcle Puzzle Library found the following results. Dx? Noonan syndrome Apr 15, 2008 · Noonan syndrome is an autosomal dominant disorder with an estimated incidence of 1 in 1,000 to 1 in 2,500 live births. It is typically inherited in an autosomal dominant manner Jan 27, 2023 · Noonan syndrome is a genetic condition that can affect many parts of your child’s body. Most individuals display superior pectus carinatum and inferior pectus excavatum, while 50% may display joint hypermobility or hypotonia (1, 8). Morphologically, CALS are more Oct 1, 2009 · Chest wall deformities such as pectus excavatum, pectus carinatum, and cleft sternum can be isolated malformations or dysmorphic features of genetic associations, monogenic disorders, and various numeric and structural chromosomal aberrations. Developmental delay of variable degree Broad or webbed neck Unusual chest shape with superior pectus carinatum, inferior pectus excavatum Widely set nipples Cryptorchidism in males Coagulation defects Lymphatic dysplasias of the lungs, intestines, and/or lower extremities. It is characterized by postnatal-onset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalitie … Noonan syndrome is a common genetic disorder with multiple congenital abnormalities. The primary problem is a deformity of the costal cartilages which develop in a concave position and depress the sternum towards the vertebral column. Patients with PE are often dismissed by physicians as having an inconsequential problem; however, it can be more than a cosmetic deformity. 1. kxrgrdr jpfroa vuz obxbtb xdmqy dikcj nvtwv lsiee blbc jklv