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We report four sibs, two males and two females, with severe and early onset asymmetrical intrauterine growth retardation (IUGR) with a disproportionally large head and a fetal akinesia deformation sequence. Neuromuscular studies were normal in the four sibs. Variable acral malformations (bilateral cleft hand in one male, proximal syndactyly of the toes (right II-III; left II-III/IV-V) in the other male) and genitourinary malformations (Rokitansky sequence in one female, renal hypoplasia/dysplasia in one male and one female, cryptorchidism in the males) were present.
The spectrum of malformations seen in these four sibs dominated by severe asymmetrical IUGR with fetal hypokinesia and early lethality provides evidence for the existence of a new MCA syndrome with apparent autosomal recessive inheritance.
The parents of the four sibs described in this report are non-consanguineous, healthy Europeans. Two other pregnancies had ended with a first trimester miscarriage. They also have two healthy daughters.
The first sib was a male newborn, who died a few minutes after birth at 35 weeks gestation. The pregnancy was complicated by polyhydramnios. The boy presented with severe asymmetrical growth retardation (weight 970 g (<10th centile), head circumference 32 cm (50th centile)) and features of FADS (Pierre-Robin sequence, pulmonary hypoplasia, fixed anteflexion of the hips, and bilateral talipes). Additionally, he had cutaneous syndactyly of several toes on both feet (left foot: toes II–III and IV–V; right foot: toes II–III), cryptorchidism, and intestinal non-fixation.
The second sib was a small macerated 21 week old female fetus with severe asymmetrical IUGR (weight 105 g (<10th centile), head circumference 16.2 cm (50th centile for 19 weeks)) …