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]
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]
SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.
[malacards.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]
[…] 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]
TABLE 1 Klinefelter Syndrome: Characteristic Clinical Findings Infertility (azoospermia or oligospermia) Small, firm testes Hypergonadotropic hypogonadism Gynecomastia Tall, slender
[aafp.org]
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]
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]
Study by Beals reported slender extremities, long fingers, and normal height as body habitus of STL patients.
[hindawi.com]
OTHER FEATURES Slender extremities, long fingers, and normal height characterise the body habitus.15 Mild spondyloepiphyseal dysplasia is often apparent radiologically.
[jmg.bmj.com]
which includes: very long slender body, including unusually long and hyperflexible limbs, a crowded arrangement of teeth and possibly a high arch of the palate.
[endocrineweb.com]
[…] patients are more likely to have an unusual appearance that is characterized by mucosal ganglioneuromas (tumors in the mouth) and symptoms resembling Marfan syndrome, Marfanoid habitus
[endocrineweb.com]
which includes: very long slender body, including unusually long and hyperflexible limbs, a crowded arrangement of teeth and possibly a high arch of the palate.
[endocrineweb.com]
[…] patients are more likely to have an unusual appearance that is characterized by mucosal ganglioneuromas (tumors in the mouth) and symptoms resembling Marfan syndrome, Marfanoid habitus
[endocrineweb.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]
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 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]
Other common features include a "marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum
[rarediseases.info.nih.gov]
Slender habitus, B. Generalised poor muscle mass, global wasting of thigh muscles, C. moderate scapular winging, D. mild clf hypertrophy with minimal ankle contracture.
[journals.plos.org]
[…] 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]
habitus, long face, congenital heart defect, cleft palate Polyglutamine-binding; mRNA splicing PHF6 Börjeson–Forssman–Lehmann syndrome Hypogonadism, obesity, facial anomalies
[intechopen.com]
[…] scoliosis Spermine synthase PQBP1 Renpenning syndrome, Sutherland–Haan syndrome, Hamel cerebro-palatocardiac syndrome, Golabi–Ito–Hall syndrome Microcephaly, short stature, slender
[intechopen.com]
Other characteristic features in CRLF1 mutation include marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender
[diki.pl]
(a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears.
[ncbi.nlm.nih.gov]
[…] characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus
[ncbi.nlm.nih.gov]
Other common features include a "marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum
[rarediseases.info.nih.gov]
Slender habitus, B. Generalised poor muscle mass, global wasting of thigh muscles, C. moderate scapular winging, D. mild clf hypertrophy with minimal ankle contracture.
[journals.plos.org]
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]
The three patients share several major features including: pre- and postnatal growth retardation with slender habitus, severe postnatal feeding difficulties, microcephaly,
[jmg.bmj.com]
Other reasons for abnormal P waves include body habitus ( tall, peaked P waves may be seen in slender individuals with a vertical axis ); increased atrial pressure (ie, from
[ecg-interpretation.blogspot.com]
Marfan patients generally have a body type called a Marfanoid body habitus.
[forgottendiseases.org]
This term means that a person is tall and slender, with long arms, hands, fingers, legs, feet and toes.
[forgottendiseases.org]
A Marfanoid body habitus occurs in a minority of EDS-H patients, but it does not appear to be generally associated with classic EDS.
[forgottendiseases.org]
[…] of isochromosome 18p, namely microstomia, prominent upper lip, pinched nose, asymmetric long face, long and narrow fingers/toes, clenched hand/camptodactyly, spasticity, slender
[jmg.bmj.com]
habitus, and scoliosis were not observed in patient 1. 18 Differences in either parental origin or mechanism of formation of the isochromosomes may provide a molecular explanation
[jmg.bmj.com]
A marfanoid, slender body habitus, long narrow face, and high-arched palate are typical. Scoliosis and clubbed feet may be present.
[clinicalgate.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]
• Later, difficulty with running and stair climbing • A marfanoid, slender body habitus, long narrow face, and high-arched palate are typical. • Progressive external ophthalmoplegia
[slideshare.net]
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]
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]
For example, they may have long, slender fingers ( arachnodactyly ), unusually long limbs, a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and an
[ghr.nlm.nih.gov]
For example, they may have long, slender fingers (arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and an abnormal
[medlineplus.gov]
(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]
