The hypertelorism microtia clefting syndrome
نویسندگان
چکیده
منابع مشابه
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
The Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome is also known as the EEC syndrome. The word ectrodactyly is derived from the Greek, and means congenital absence of all or part of a finger or toe. While both hands and both feet are usually involved, exceptions have been noted in that one hand may be normal and, rarely, all extremities are normal. Tear ducts are abnormal in most affected ...
متن کاملMicrotia 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 کاملFurther evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting.
Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated...
متن کاملIris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.
متن کاملUmblical hernia, hypertelorism, sensorineural deafness: Is it Donnai–Barrow syndrome?
Introduction: Donnai–Barrow syndrome is a rare autosomal recessive disorder first described in 1993 and characterized by diaphragmatic hernia, hypertelorism, agenesis of the corpus callosum and deafness. Case Report: A 23yearold female with clinical features similar to Turner patients were sent to our department by cardiology department. The main features were umblical hernia, hypertelorism (...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1982
ISSN: 1468-6244
DOI: 10.1136/jmg.19.5.387