Semilobar holoprosencephaly with 21q22 deletion: an autopsy report
نویسندگان
چکیده
منابع مشابه
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate
Background Holoprosencephaly (HPE) is often accompanied by a deficit in midline facial development; however, congenital oropharyngeal stenosis in neonates with HPE has not been reported before. We describe a case of a neonate with prenatally diagnosed semilobar HPE accompanied by congenital oropharyngeal stenosis. Case Report The patient was born at 39 weeks of gestation and developed dyspnea s...
متن کاملSemilobar holoprosencephaly seen with diffusion tensor imaging and fiber tracking.
A neonate with semilobar holoprosencephaly was studied with diffusion tensor imaging and fiber tracking. Fiber tracking showed that the frontooccipital fasciculi were in continuity across the ventral midline, interposed between fused caudate and dysplastic fornices. Tractography of the posterior limbs of the internal capsules showed fibers arching ventrally toward the expected location of the m...
متن کاملA preterm infant with semilobar holoprosencephaly and hydrocephalus: a case report
INTRODUCTION Holoprosencephaly (HPE) is a rare presentation in newborns. It refers to an incomplete or absent division of the prosencephalon or forebrain into distinct cerebral hemispheres. CASE PRESENTATION A preterm baby girl, first of dizygotic twins, born at 26 weeks of gestation to a 45 year old mother, was prenatally diagnosed with ventriculomegaly on fetal ultrasonogram. At birth the b...
متن کاملHoloprosencephaly with multiple anomalies of the craniofacial bones-an autopsy report.
Holoprosencephaly (HPE), a disorder which results from a failure of cleavage or the incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We are reporting a case of a multiparous woman who was G3,P3,L2, who delivered a full term foe...
متن کاملDistinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially overlapping microdeletion of 21q22 and a striking phenotypic resemblance. They both presented with severe psychomotor delay, behavioral problems, no speech, microcephaly, feeding problems with frequent regurgitation, idiopathic thrombocy...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2014
ISSN: 1757-790X
DOI: 10.1136/bcr-2014-203597