Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
نویسندگان
چکیده
We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the familial cases were non-specific and biochemical investigations were normal. Of the four other published cases, two were sporadic and of normal height. The other two were sibs with short stature and their parents were heterozygous for the Weill-Marchesani syndrome. We were unable to ascertain whether hypertrichosis cubiti cosegregates with the same type of skeletal dysplasia or elucidate the type of genetic transmission of hypertrichosis cubiti alone.
منابع مشابه
Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)
INTRODUCTION The hypertrichosis cubiti also named "hairy elbow syndrome" is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including short stature, facial dysmorphism, developmental delay and bone anomalies. CASE REPORT The Authors report on a girl 8 years old, who showed a classical hypertrichosis cubiti, tufts of peluria in the ...
متن کاملFamilial hypertrichosis cubiti: hairy elbows syndrome.
Genetically determined hypertrichosis is uncommon, but several forms of familial hairiness have been described. In some kindreds the unusual hairiness has been generalized, while in others, the hypertrichosis has been confined to a specific site on the body. The purpose of this paper is to report the occurrence of undue hairiness of the elbow regions in members of an Amish family, and to discus...
متن کاملHypertrichosis cubiti, a case report and literature review
Hypertrichosis cubiti is an uncommon congenital hypertrichosis with links to genetic syndromes, both autosomal dominant and recessive, with variable penetrance and expressivity. It may also present in sporadic cases with no phenotypic abnormalities or family history.
متن کامل[Two cases of hypertrichosis cubiti].
Hypertrichosis cubiti, also known as hairy elbows syndrome, is an uncommon form of localized congenital hypertrichosis in which an excessive amount of long, fine, lanugo-type hair is found on skin of normal texture and morphology. The hair growth follows a bilateral symmetrical distribution and affects the extensor surface of the distal third of the upper arms and the proximal region of the for...
متن کاملA Noonan-like short stature syndrome with sparse hair.
Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormali...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 6 شماره
صفحات -
تاریخ انتشار 1989