Article
Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings.
Clinical genetics - 1 Dec 1995
Prpić I, Cekada S, Franulović J
Abstract excerpt
We report on two male siblings with an oro-facial-digital syndrome. The parents and two other siblings, a boy and a girl, are unaffected. The clinical findings on the reported brothers were different. Patient 1 had typical oral, facial and digital anomalies plus hypoplastic genitalia and short limbs. Clinically he had marked hypotonia, convulsions and apneic episodes. He died shortly after birth. His brother,...
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