Get Update Overview Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus
[diseaseinfosearch.org]
From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.
[link.springer.com]
Proband at the age of 6 years and 7 months, showing (a) slender habitus with little subcutaneous fat and scars from the surgery for inguinal hernias; (b) cutis aplasia in
[molecularcytogenetics.biomedcentral.com]
A slender habitus is uncommon in Marshall‐Smith and sternum abnormalities have been recorded only occasionally.
[ncbi.nlm.nih.gov]
Skeletal anomalies are frequent, especially a slender habitus (59%) together with long hands (60%) (Supporting Information Figure 7b), sometimes described as resembling Marfan
[ncbi.nlm.nih.gov]
habitus 35/55 11/23 46/78 0/57 ++ ‐ Kyphoscoliois 18/56 5/16 23/72 17/37 + + Pectus excavatum/carinatum 19/56 11/19 30/75 3/37 + + Other Hypertrichosis 0 0 0 29/35 ‐ ‐ Gum
[ncbi.nlm.nih.gov]
[…] phenotype consisting of generalized hypotonia, long face, thin and well-defined eyebrows, strabismus, widely spaced eyes, long palpebral fissures, downturned mouth, and slender
[frontiersin.org]
Slender habitus, dolichostenomielia, large hands and fingers and moderate joint hyperextensibility were also noted ( Figure 3d ).
[nature.com]
However, the most striking feature in both patients was a marfanoid habitus, with long and slender morphotype, a very low BMI, long narrow face, and arachnodactyly.
[nature.com]
She showed slender habitus, with dolichostenomielia, arachnodactily, large hands and fingers, triangular face with wide forehead, prominent mandible, small mouth, scoliosis
[nature.com]
Classically majority had a slender habitus. The salient neurological symptoms and signs among these 10 patients are shown in Table 1.
[ncbi.nlm.nih.gov]
Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence
[fpnotebook.com]
Clinical features include a tall slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence
[icd10data.com]
habitus, scoliosis, arachnodactyly, muscle weakness, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency
[fpnotebook.com]
habitus, scoliosis, arachnodactyly, muscle weakness, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency
[icd9data.com]
[…] metabolism usually caused by a deficiency of cystathionine beta-synthase and associated with elevations of homocysteine in plasma and urine; clinical features include a tall, slender
[icd9data.com]
SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.
[uniprot.org]
Slender habitus, dolichostenomielia, large hands and fingers and moderate joint hyperextensibility were also noted ( Figure 3d ).
[nature.com]
However, the most striking feature in both patients was a marfanoid habitus, with long and slender morphotype, a very low BMI, long narrow face, and arachnodactyly.
[nature.com]
Congenital contractural arachnodactyly (CCA) is characterized by a Marfan-like appearance (tall, slender habitus in which arm span exceeds height) and long, slender fingers
[ncbi.nlm.nih.gov]
The following are seen in individuals with CCA: Marfan syndrome-like appearance characterized by a tall and slender habitus with arm span exceeding height Arachnodactyly
[ncbi.nlm.nih.gov]
[…] long slender fingers and toes) "Crumpled" ears that present as a folded upper helix of the external ear Joint contractures at birth: Knees (81%) and elbows (86%) are most
[ncbi.nlm.nih.gov]
Some individuals have a slender body habitus, but without tall stature.
[ncbi.nlm.nih.gov]
Study by Beals reported slender extremities, long fingers, and normal height as body habitus of STL patients.
[hindawi.com]
Occasionally, patients with AD Stickler syndrome may exhibit some musculoskeletal features suggestive of a “Marfanoid” habitus, including slender extremities and joint laxity
[mdpi.com]
Slender build MedGen UID: 376828 •Concept ID: C1850573 • Finding Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones
[ncbi.nlm.nih.gov]
habitus and extremities).
[mendelian.co]
[…] nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender
[mendelian.co]
From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.
[molecularcytogenetics.biomedcentral.com]
habitus with little subcutaneous fat, facial dysmorphic features, signs of ectodermal dysplasia, cutis aplasia and feeding problems.
[molecularcytogenetics.biomedcentral.com]
habitus, feeding difficulties, cutis aplasia over the posterior occiput, signs of ectodermal dysplasia, and genital malformation in males (hypospadias).
[molecularcytogenetics.biomedcentral.com]
[…] patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender
[ncbi.nlm.nih.gov]
A slender habitus with long and slender fingers was a frequent sign.
[nature.com]
Evaluation of our patients with regard to this aspect revealed a slender habitus with long and slender fingers as a frequent sign (Figure 2).
[nature.com]
Front Views of the Three Overgrowth Syndrome Patients Note the high forehead, long narrow face (patients A and C), and slender habitus.
[ncbi.nlm.nih.gov]
Slender habitus, dolichostenomielia, large hands and fingers and moderate joint hyperextensibility were also noted ( Figure 3d ).
[nature.com]
Patients A–C presented a very similar phenotype consisting of postnatal overgrowth, macrocephaly, advanced bone age, long narrow face, high forehead, slender habitus, scoliosis
[ncbi.nlm.nih.gov]
Although dated, one study identified an increased a risk for developing pneumothorax in paratrooper populations, especially those with a tall and slender body habitus [ 8
[omicsonline.org]
A tall (185 cm) 29-year-old male paratrooper in good physical condition with a slender body habitus (body mass index (BMI)=19.2) and no history of smoking presented to his
[omicsonline.org]
In paratroopers with a slender body habitus, trauma sustained during an airborne operation may be a contributing factor to a pneumothorax following a hard landing on the flank
[omicsonline.org]
The features common to both include tall and slender habitus, myopia, ectopia lentis, and chest deformities. Table II.
[dermatologyadvisor.com]
She did not have a Marfanoid habitus. She was strongly myopic. Facial dysmorphism was not present. The patient had long and slender fingers without hypermobile joints.
[academic.oup.com]
Affected individuals are tall and slender with asthenic habitus. Fifty percent of the individuals show osteoporosis by their teens.
[dermatologyadvisor.com]
[…] body habitus with long legs and shorter torso Osteoporosis (in young or middle-age men) Motor delay or dysfunction Speech and language difficulties Attention deficits Learning
[aafp.org]
These features would include first and foremost small firm testes (low testicular volume), tall slender body habitus, and in some cases breast enlargement (gynecomastia) and
[dermatologyadvisor.com]
TABLE 1 Klinefelter Syndrome: Characteristic Clinical Findings Infertility (azoospermia or oligospermia) Small, firm testes Hypergonadotropic hypogonadism Gynecomastia Tall, slender
[aafp.org]
There is a generalized skeletal complex characterized by slender body habitus, joint hyperextensibility, prominence of large joints, arthropathy, and radiographie changes
[healio.com]
Abstract Arachnodactyly literally means spidery fingers, and describes the long, slender fingers typical of patients with Marfan syndrome (MFS).
[nature.com]
Many clinicians regard arachnodactyly as pathognomonic of MFS; however, this view is misleading as arachnodactyly is a key element of the marfanoid habitus, which is present
[nature.com]
The three patients share several major features including: pre- and postnatal growth retardation with slender habitus, severe postnatal feeding difficulties, microcephaly,
[doi.org]
[…] body habitus, narrow shoulders and pelvis, hypospadias, bilateral undescended testis, small penis, and diffuse hyperpigmentation with hypopigmented patches are also described
[omicsonline.org]
Additionally, patellar aplasia-hypoplasia, corpus callosum agenesis, restricted articular function, vertebral fusions, bilateral camptodactyly, deep palmo-plantar creases, long and slender
[omicsonline.org]
The condition occurs most commonly in asthenic patients of a lean, slender habitus and is much more common in females than in males (8, 11, 12, 13).
[doi.org]
slender body with hyperflexible joints (75% of cases) newest category of MEN The mutation is in the CDKN1B gene of chromosome 12 Very similar to MEN 1 but different mutation
[quizlet.com]
[…] adenomas- the biggest difference to note between 2A and 2B Unique MEN 3/2B characteristics Mucosal Neuromas-bumpy enlarged tongue and lips (90% of cases) Marfan-like body habitus-long
[quizlet.com]
(slender, tall, long fingers and toes, and high arched palate like Marfan disease ).
[dermnetnz.org]
”, a condition in which affected individuals tend to be thin with unusually tall stature; long, slender fingers and toes (arachnodactyly); and elongated arms and legs.
[rarediseases.org]
[…] neuromas (nerve tumours on the mucous membranes), neuromas in the gut that lead to gastrointestinal abnormalities, and striking facial appearance associated with Marfanoid habitus
[dermnetnz.org]
(a body habitus distinguished by a slender physique, as well as long limbs, an angular profile, and prominent muscles or bones).
[emedicine.medscape.com]
Some individuals have a slender body habitus, but without tall stature.
[ncbi.nlm.nih.gov]
Familial mitral valve prolapse syndrome 1 This condition (OMIM #157700) occurs as an autosomal dominant trait, either isolated, or in association with an asthenic habitus
[emedicine.medscape.com]
Habitual elbow dislocation, slender ribs, slender long bones, abnormal glenoid fossas, hooked clavicles, clinodactyly, epiphyseal flattening, camptodactyly, blunt osteochondritis
[accessanesthesiology.mhmedical.com]
Clinical aspects Short stature, very slender, poor weight gain, delayed bone age, and absent patellae may be signs, but they are more part of the delayed bone age.
[accessanesthesiology.mhmedical.com]
(slender, tall, long fingers and toes, and high arched palate like Marfan disease ).
[dermnetnz.org]
”, a condition in which affected individuals tend to be thin with unusually tall stature; long, slender fingers and toes (arachnodactyly); and elongated arms and legs.
[rarediseases.org]
[…] neuromas (nerve tumours on the mucous membranes), neuromas in the gut that lead to gastrointestinal abnormalities, and striking facial appearance associated with Marfanoid habitus
[dermnetnz.org]
Some individuals have a slender body habitus, but without tall stature.
[ncbi.nlm.nih.gov]
Study by Beals reported slender extremities, long fingers, and normal height as body habitus of STL patients.
[hindawi.com]
Occasionally, patients with AD Stickler syndrome may exhibit some musculoskeletal features suggestive of a “Marfanoid” habitus, including slender extremities and joint laxity
[mdpi.com]
