Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism

Ronald D. Cohn; Gabriele Gillessen-Kaesbach; William B. Dobyns; Thomas Kahn; Hans G. Lenard; Thomas Voit

doi:10.1002/(SICI)1096-8628(19960503)63:1<314::AID-AJMG52>3.0.CO;2-N

Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism

Ronald D. Cohn, Gabriele Gillessen-Kaesbach, William B. Dobyns, Thomas Kahn, Hans G. Lenard, Thomas Voit

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.

Original language	English (US)
Pages (from-to)	314-317
Number of pages	4
Journal	American journal of medical genetics
Volume	63
Issue number	1
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<314::AID-AJMG52>3.0.CO;2-N
State	Published - May 3 1996
Externally published	Yes

Keywords

adducted thumb
brachymicrocephaly
early death
lissencephaly
micropenis
polymicrogyria
progeria

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/(SICI)1096-8628(19960503)63:1<314::AID-AJMG52>3.0.CO;2-N

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Cohn, R. D., Gillessen-Kaesbach, G., Dobyns, W. B., Kahn, T., Lenard, H. G., & Voit, T. (1996). Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. American journal of medical genetics, 63(1), 314-317. https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<314::AID-AJMG52>3.0.CO;2-N

Cohn, RD, Gillessen-Kaesbach, G, Dobyns, WB, Kahn, T, Lenard, HG & Voit, T 1996, 'Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism', American journal of medical genetics, vol. 63, no. 1, pp. 314-317. https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<314::AID-AJMG52>3.0.CO;2-N

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abstract = "A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.",

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AU - Dobyns, William B.

AU - Kahn, Thomas

AU - Lenard, Hans G.

AU - Voit, Thomas

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Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism

Abstract

Keywords

ASJC Scopus subject areas

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