Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-cons...Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis.展开更多
Holoprosencephaly (HPE) is a rare brain malformation with multiple etiologies and is often associated with suggestive facial anomalies. This pathology is the result of a defect in the early development of the forebrai...Holoprosencephaly (HPE) is a rare brain malformation with multiple etiologies and is often associated with suggestive facial anomalies. This pathology is the result of a defect in the early development of the forebrain. There are three clinical forms: lobar, semi-lobar, alobar and another milder subtype of HPE called middle interhemispheric. In this clinical case, we present a newborn with alobar holoprosencephaly and we highlight the clinical, radiological and progressive clinical aspects of this illness during the neonatal period.展开更多
文摘Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis.
文摘Holoprosencephaly (HPE) is a rare brain malformation with multiple etiologies and is often associated with suggestive facial anomalies. This pathology is the result of a defect in the early development of the forebrain. There are three clinical forms: lobar, semi-lobar, alobar and another milder subtype of HPE called middle interhemispheric. In this clinical case, we present a newborn with alobar holoprosencephaly and we highlight the clinical, radiological and progressive clinical aspects of this illness during the neonatal period.
