To the Editor : With the occurrence of an estimated incidence of less than 1 in 70,000 births, agnathia–otocephaly is an often sporadic and lethal disorder characterized primarily by an aplastic/hypoplastic mandible, astomia/microstomia, persistence of the bucchopharyngeal membrane, palatopharyngeal incompetence, and with variable anterior midline fusion of the ears (1–6) . We previously identified a dominant negative loss‐of‐function PRRX1 mutation in a therapeutically aborted fetus with agnathia–otocephaly and conceived by non‐consanguineous parents (6) . However, in this study we report a new case of an otocephalic newborn infant conceived by consanguineous parents and with a homozygous loss‐of‐function mutation in PRRX1 . The proband was the third child conceived by clinically healthy parents from a consanguineous first cousin marriage. Two older female siblings (13 and 9 years old) conceived by the same parents were clinically healthy. The proband ( Fig. 1a ) delivered by cesarean section from the 31‐year‐old mother, at 38 gestational weeks, was a 2980 g female who died shortly because of respiratory distress. A full autopsy revealed downward slanting palpebral fissures, synotia, an extreme hypoplastic oropharynx with a blind‐ended and small stoma, a hypoplastic and retropositioned tongue, a hypoplastic and dysmorphic larynx and epiglottis, agenesis of
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PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents
Çelik, T; Simsek, PO; Sozen, T; Ozyuncu, O; Utine, GE; Talim, B; Yiğit, Ş; Boduroglu, K; Kamnasaran, D
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, Volume 81 (3)
Wiley – Mar 1, 2012
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