The femoral hypoplasia-unusual facies syndrome.
نویسندگان
چکیده
A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.
منابع مشابه
Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.
A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously des...
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INTRODUCTION Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infectio...
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provided the original work is properly cited. CC Femoral hypoplasia-unusual facies syndrome (FHUFS) is a rare and sporadic condition comprised of multiple congenital malformations including bilateral femoral hypoplasia and characteristic facial features [1,2]. Patients with FHUFS may undergo various operations whether those procedures are associated with the syndrome or not. This syndrome is kn...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 21 5 شماره
صفحات -
تاریخ انتشار 1984