Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.
نویسندگان
چکیده
منابع مشابه
The 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.
متن کاملA new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance se...
متن کاملA new recessive syndrome of unusual facies and multiple structural abnormalities.
Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely.
متن کامل[Femoral hypoplasia-unusual facies syndrome: A case report].
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...
متن کاملThe possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome.
The possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome Several reports have been published describing the newly recognised autosomal recessive limb/pelvis-hypoplasia/aplasia syndrome (LPHAS).'-5 Raas-Rothschild et al3 have speculated that the rare LPHAS gene has its origin in the Middle East, on the basis of both their report on three sibs of Iranian Jew...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1985
ISSN: 1468-6244
DOI: 10.1136/jmg.22.1.36