Case Reports
doi: 10.1016/s0301-2115(99)00021-4.
Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay
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- PMID: 10584631
- DOI: 10.1016/s0301-2115(99)00021-4
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Case Reports
Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay
Eur J Obstet Gynecol Reprod Biol.
1999 Aug.
Abstract
Brachmann-de Lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent.
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