Agnathia-holoprosencephaly: a new recessive syndrome?

Abstract:

:The association between agnathia and holoprosencephaly is well documented (Pauli et al., 1981). Pauli et al. described two female sibs with agnathia and holoprosencephaly who were subsequently shown to carry an unbalanced 46,XX, der 18,t(6;18)(pter p24.1) karyotype (Pauli et al., 1983; Krassikoff and Sekhon, 1989). All other cases have been sporadic (Cohen, 1989). We present a recurrence of agnathia-holoprosencephaly in an unrelated European couple and postulate that this association may represent an autosomal recessive syndrome.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Porteous ME,Wright C,Smith D,Burn J

subject

Has Abstract

pub_date

1993-04-01 00:00:00

pages

161-4

issue

2

eissn

0962-8827

issn

1473-5717

journal_volume

2

pub_type

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