ISSN:
1432-1971
Keywords:
Key words: Intrauterine growth retardation — Aged facies — Congenital heart disease — Johanson–Blizzard syndrome
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract. We report a female newborn with Johanson–Blizzard syndrome associated with extreme intrauterine growth retardation, aged facial appearance, and atrial septal defect. Other features are microcephaly, prominent veins over the scalp, alopecia over the vertex, wide-open fontanelle, high forehead, antimongoloid slant, edematous eyelids, the absence of eyebrows and eyelashes, beaked nose with alae nasi, low-set ears, thin lips, and micrognathia. Investigations revealed deafness and congenital hypothyroidism. We believe that this association of severe intrauterine growth retardation and congenital heart disease represents the components of this syndrome.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s002460010089
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