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.
Limb body wall syndrome (LBW) is one of the rarest malformation complexes. It is also known by other names as « Abnormal stem of the body » « Congenital absence of the umbilical cord » and « cyllosome and Pleurosomus » [1]. This complex is a heterogeneous disease characterized by multiple severe congenital abnormalities of the fetus with exencephalon/thoraco-encephalo and/or abdominoschisis (anterior parietal malformations) and malformations of the limbs, with or without facial slits. The diagnosis remains difficult to establish in view of the clinical polymorphism the prenatal ultrasound can detect this abnormality during the first trimester. The exact etiology of this condition is still uncertain, the theory of amniotic bands of Tropin and the vascular theory (early vascular accident) of Van Allen have not succeeded in explaining all the abnormalities observed in the LBWC [2]. Karyotype study are normal and there has been no evidence of correlation with sex, age of parents or teratogenic agents. Prognosis is fatal death occurring in antenatal or early neonatal period. We are describing two cases of Limb body wall syndrome (LBW).
Superficialangiomyxoma (SMA) is a rare benign skin tumorwith a peak incidence in middle age . The diseaseiscaused by mutations in the PRKAR1A gene. Which, codes for the type of I alpha regulatorysubunit of the enzyme protein kinase A. We report a rare case of vulvarangiomyxomain 19-year-old patient beneficied of large exicion of mass in the leftlabia majora. the diagnostic of SMA retained, afterhistologicalstudy of surgicalspecimen , The evolution has been good withoutrecurrence.
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