Prenatal Diagnosis · 1988 · 25 citations · 1 references
Life SciencesGeneticsPediatricsHuman GeneticsMedical GeneticsNeurogeneticsCongenital DisordersCongenital Head AnomaliesCongenital MalformationsGenetic DisordersGenetic SyndromesAutosomal Recessive InheritanceCongenital MicrocephalyPediatric Neurogenetic DisordersX-linked Neurodevelopmental Disorders
Two still-born males whose mothers were sisters are presented. The features holoprosencephaly, hypokinesia, microcephaly, talipes, and other contractures correspond to those in the two male sibs reported by Morse et al. (1987). We suggest that our cases now provide evidence of an X-linked rather than an autosomal recessive new syndrome.
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Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia
Richard P. Morse, Eileen Rawnsley, Steven K. Sargent et al. · Prenatal Diagnosis · 1987 · 24 citations
Medicine, Obstetrics, Pediatrics +17