Anophthalmia with cleft palate and micrognathia: a new syndrome?

Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?

Identical twins with Pierre Robin syndrome; unusual encounter

New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence...

Roberts-SC syndrome, a rare syndrome and cleft palate repair

Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was ...

Molecular Genetics of Non-syndromic Cleft Palate and Van Derwoude Syndrome

(2001) Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. (2001) Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. (2003) Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. (2003) Linkage and linkage disequilibrium searched between non-syndromic cleft ...

New Insights on Genetic Features of Neu-Laxova Syndrome

ABSTRACTBackground: This study aimed to present a rare case of Neu-Laxova syndrome (NLS) and review the newly revealed genetic features of the disease in hopes to find a way for early interventions.Case report: Female newborn with NLS was born at 30 weeks of gestation to consanguineous parents. The last prenatal ultrasound imaging revealed severe intrauterine growth restriction and microcephaly...