Seckel dwarfism based on a personal case

Report on a girl with Seckel-syndrome (bird-headed dwarfism). In addition to the known symptomatology she had a congenital heart failure (ASD II, VSD, PDA). Endocrine evaluation revealed decreased growth hormone stimulation. In the CT-scan of the skull enlarged ventricles were demonstrated.

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Bibliographische Detailangaben
Veröffentlicht in:	Klinische Pädiatrie 1989-03, Vol.201 (2), p.139-141
Hauptverfasser:	Howanietz, H, Frisch, H, Jedlicka-Köhler, I, Steger, H
Format:	Artikel
Sprache:	ger
Schlagworte:	Abnormalities, Multiple - genetics Body Height Child Child Development Dwarfism, Pituitary - genetics Female Humans Infant, Newborn Intellectual Disability - genetics Microcephaly - genetics Nose - abnormalities Syndrome
Online-Zugang:	Volltext
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Beschreibung
Zusammenfassung:	Report on a girl with Seckel-syndrome (bird-headed dwarfism). In addition to the known symptomatology she had a congenital heart failure (ASD II, VSD, PDA). Endocrine evaluation revealed decreased growth hormone stimulation. In the CT-scan of the skull enlarged ventricles were demonstrated.
ISSN:	0300-8630