The authors report a male infant born at 35 weeks gestational age with an atypical presentation of homozygous alpha-thalassemia. The live-born infant displayed abnormalities of the upper limbs and genitalia, which are vascular-type disruptive defects associated with this disease. Cardiomegaly and placentomegaly were the only evidence of fetal hydrops. Postnatal karyotype revealed mosaicism for trisomy 7, yet another rare finding in a live-born. The authors discuss their institutional experience with each of these rare conditions and the potential contribution of each to the overall unusual clinical presentation in this patient. This is the first report of these simultaneous diagnoses.
The authors report a male infant born at 35 weeks gestational age with an atypical presentation of homozygous alpha-thalassemia. The live-born infant displayed abnormalities of the upper limbs and genitalia, which are vascular-type disruptive defects associated with this disease. Cardiomegaly and placentomegaly were the only evidence of fetal hydrops. Postnatal karyotype revealed mosaicism for trisomy 7, yet another rare finding in a live-born. The authors discuss their institutional experience with each of these rare conditions and the potential contribution of each to the overall unusual clinical presentation in this patient. This is the first report of these simultaneous diagnoses.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.