Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome

B. Wolach; A. Raas‐Rothschild; A. Metzker; L. Choc; R. Straussberg; S. Lew; R. M. Goodman

doi:10.1111/j.1399-0004.1990.tb03392.x

Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome

B. Wolach^*, A. Raas‐Rothschild, A. Metzker, L. Choc, R. Straussberg, S. Lew, R. M. Goodman

^*Corresponding author for this work

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Abstract

A 5‐year‐old Sephardic Jewish girl, born of consanguineous parents, is described. She has short stature, microcephaly, conductive hearing loss, skin mastocytosis and microtia. Since this constellation of findings has not been reported previously, we think that these findings represent a new congenital malformation, most probably of genetic etiology.

Original language	English
Pages (from-to)	64-68
Number of pages	5
Journal	Clinical Genetics
Volume	37
Issue number	1
DOIs	https://doi.org/10.1111/j.1399-0004.1990.tb03392.x
State	Published - Jan 1990
Externally published	Yes

Keywords

conductive hearing loss
mastocytosis
microtia
new malformation syndrome

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abstract = "A 5‐year‐old Sephardic Jewish girl, born of consanguineous parents, is described. She has short stature, microcephaly, conductive hearing loss, skin mastocytosis and microtia. Since this constellation of findings has not been reported previously, we think that these findings represent a new congenital malformation, most probably of genetic etiology.",

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AU - Lew, S.

AU - Goodman, R. M.

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Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome

Abstract

Keywords

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