A Case of Complete Neu-Laxova Syndrome: Report and Literature Review  

作　　者：Bouchra Fakhir[1] Oussama Rachid[1] Amal Ait Benhassi[1] Nisrine Aboussair[1] Abderraouf Soummani[1] 

出　　处：《Open Journal of Obstetrics and Gynecology》2020年第3期341-347,共7页妇产科期刊（英文）

摘　　要：Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early fatal disease. It is a complex entity that includes intrauterine growth retardation, abnormal facial structure, limb and skeletal abnormalities, and ichthyosis and severe malformations of the central nervous system. We report a rare case of recurrence of Neu-Laxova syndrome in a 32-year-old pauciparous woman, which occurred after a first cousin’s consanguineous marriage. Typical ultrasound findings included hydramnios, severe intrauterine growth restriction, craniofacial and central nervous system abnormalities such as ventriculomegaly. The newborn shows a terrible face with a usual craniofacial aspect, eyeball proptosis, puffy hands and feet, large bilateral cleft lip/palate, severe hall body ichthyosis. The overcome was fatal, the death occurred in less than one hour after birth. Consanguinity remains the most implicated cause which is high in developing countries. Prenatal serial ultrasound examinations with genetic counselling should be performed on high-risk pregnant women to terminate affected pregnancies.Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early fatal disease. It is a complex entity that includes intrauterine growth retardation, abnormal facial structure, limb and skeletal abnormalities, and ichthyosis and severe malformations of the central nervous system. We report a rare case of recurrence of Neu-Laxova syndrome in a 32-year-old pauciparous woman, which occurred after a first cousin’s consanguineous marriage. Typical ultrasound findings included hydramnios, severe intrauterine growth restriction, craniofacial and central nervous system abnormalities such as ventriculomegaly. The newborn shows a terrible face with a usual craniofacial aspect, eyeball proptosis, puffy hands and feet, large bilateral cleft lip/palate, severe hall body ichthyosis. The overcome was fatal, the death occurred in less than one hour after birth. Consanguinity remains the most implicated cause which is high in developing countries. Prenatal serial ultrasound examinations with genetic counselling should be performed on high-risk pregnant women to terminate affected pregnancies.

关 键 词：eu-Laxova SYNDROME ICHTHYOSIS Growth RETARDATION MICROCEPHALY Polymalfomations 

分 类 号：R73[医药卫生—肿瘤]