We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old gravida 4, para 1 after sonography at gestation 35 weeks. The karyotype was unusual, with 46, XY,...

Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; characteristics of the two affected relatives were added to 19 well documented published reports. The data from index cases support the concept of the G syndrome as a constellation of midline defects, which include hypertelorism or telecanthus (89%), oesophageal dysmotili...

Axenfeld Rieger Syndrome is anterior segment dysgenesis characterized by posterior embryotoxon and of the chamber. Developmental abnormalities angle cause increased resistance to outflow. Ocular hypertension a complication in almost 50% cases. It an autosomal dominant disease its prevalence between 50,000 100,000 newborns per year. The main associated affected genes are FOXC1 PITX2, occurring 4...

The term Scheuthauer-Marie-Sainton syndrome is also known as cleidocranial dysplasia or dystosis and derived from ancient greek words cleido (collar bone), knanion (head) (abnormal formation). It an uncommon but well genetic skeletal condition autosomal dominant malformation affecting bones teeth. most common dental abnormalities in affected individuals are hypoplastic/ aplastic clavicles, open...

49,xxxxy is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. we reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (...

KANJI YOSHIMOTO, MASAHIRO YASUHARA, SETSUO KOMURA, YUKI MISUMI, YUKI UCHIYAMA, AKINORI KOGURE, CHIZUKO HIOKI, YASUO WAKABAYASHI, YOSHIKO SATOMI, AKIRA NISHIMURA, FUMIHIKO FUKUDA, MASAFUMI HORI, CHIHIRO YOKOYAMA and TOSHIHIDE YOSHIDA Department of Legal Medicine, Department of Endocrinology, Diabetes and Metabolism, Department of Biochemistry, Department of Pediatrics, and Department of Psychiat...

The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome, except in the most striking feature from which its name is derived. The less neutral but very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al to whom the major debt in the definition of this syndrome lies, that is, Lentigines, ECG abnormalities, Ocular hypertelorism...

Basal encephaloceles are often associated with other midline anomalies such as hypertelorism, broad nasal root, cleft lip, and cleft palate. Optic disc anomalies such as pallor, dysplasia, optic pit, coLoboma, and megalopapilla have been reported to occur in patients with basal encephalocele We report a case of a child with a sphenoethmoidal encephalocele and morning glory syndrome of the optic...

Two sibs of a consanguineous mating are described. Both have a gross costovertebral segmentation defect affecting nearly all the thoracic vertebrae, and mesomelia of the limbs, with the upper limbs being obviously more affected than the lower. The facial appearances of the two are identical, with hypertelorism, depressed nasal bridge, large bony upper lip, constantly open mouth, and peg-like te...