Unknown syndrome: proportionate short stature, mandibular prognathism, and short femoral necks
نویسندگان
چکیده
منابع مشابه
Microtia and short stature: a new syndrome.
Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the ep...
متن کاملShort stature as the first manifestation of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is an autosomal dominant disorder caused by heterozygous mutations in the polymerase, delta 1, catalytic subunit (POLD1) gene. Here, we report the clinical description of a 10-year-old boy who first presented with short stature and hypogonadism. We screened this patient for mutations by focused exome sequencin...
متن کاملShort and Tall Stature
Short or tall stature is primarily a normal variation of height. It is part of the continuum of the normal Gaussian distribution curve which defines the lower and upper limit of normal as the 3rd and 97th percentile. Within this context it is very important to differentiate normal variations in height and growth from pathological conditions. Normal variations in height are familial and idiopath...
متن کاملSyndromes with short stature
At present, factors that have been recognized as being able to influence growth are: nutritional, physical, chemical, psychological and genetic. The causes of short stature are numerous, with about 90% of cases classified as Idiopathic Short Stature and divided into 2 types familial short stature and constitutional short stature. Part of the population with growth disorders are SGA newborns (10...
متن کاملNovel subtype of congenital partial lipodystrophy with mandibular hypoplasia, sensorineural deafness and short stature of unknown genetic origin
The unique clinical manifestations of congenital partial lipodystrophy are herein reported due to its rarity.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.6.422