Smith-Magenis syndrome and tetralogy of Fallot

[...]a clinically recognisable phenotype has been described, 2-8 including brachycephaly, midfacial hypoplasia, a broad, flat nasal bridge, prominent lower jaw, inverted V shaped upper lip with a prominent cupid's bow, hoarse voice, speech delay, psychomotor and growth retardation, and behaviou...

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Veröffentlicht in:	Journal of medical genetics 1999-06, Vol.36 (6), p.501-502
Hauptverfasser:	SWEENEY, ELIZABETH, PEART, IAN, TOFEIG, MAGDI, KERR, BRONWYN
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Age Cardiology Cardiovascular disease Chromosome Deletion Chromosomes Chromosomes, Human, Pair 17 - genetics Congenital diseases Defects Developmental Disabilities - genetics Ears & hearing Female Genotype & phenotype Heart Humans Infant Letters to the Editor Male Parents & parenting Patients Pulmonary arteries Sleep Syndrome Tetralogy of Fallot - genetics
Online-Zugang:	Volltext
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