Clinical Genetics · 1987 · 19 citations · 7 references
Developmental AnomalyFamily MedicineMendelian DisorderBrachmann‐de Lange SyndromeGenetic DisorderUnique Malformation SyndromePediatricsPathologyMca SyndromeFamily HistoryMedicineChild Development
In this report we describe two male siblings with typical Brachmann-de Lange syndrome. Both presented a severe form of this MCA syndrome, and died at the age of 3 months and 3 weeks, respectively. Family history was completely negative, parents were normal, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.
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FAMILIAL OCCURRENCE OF CORNELIA DE LANGE'S SYNDROME
Bente Beck · Acta Paediatrica · 1974 · 28 citations
Ernest Lieber · American journal of diseases of children · 1973 · 20 citations