[Femoral hypoplasia-unusual facies syndrome: A case report].
نویسندگان
چکیده
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 infections, radiation, and oligohydramnios. OBJECTIVE The case of a newborn with this syndrome is presented. CLINICAL CASE Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy. CONCLUSIONS Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome.
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...
متن کاملThe femoral hypoplasia-unusual facies syndrome.
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.
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ورودعنوان ژورنال:
- Revista chilena de pediatria
دوره 87 1 شماره
صفحات -
تاریخ انتشار 2016