Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalit...

Congenital scoliosis is a scoliosis that occurs as a result of bony abnormalities that arise between 4 to 16 weeks of gestation. There are genetic and environmental factors involved in etio­ logy. The majority of congenital vertebral anomalies are in the thoracic spine (64%). The patients often have associated skeletal anomalies and can also be part of a syndrome. Skeletal, cardiac, genitourina...

Although congenital malformations are believed to be on the rise in the oil production areas of Nigeria, few baseline data are available. This retrospective study documented the incidence of congenital abnormalities in 2 major hospitals in Port Harcourt, an oil-rich city in Rivers state, Nigeria. Delivery and nursery records were reviewed from January 1990 to December 2003. In the first hospita...

Terms such as oculoauriculovertebral dysplasia, Goldenhar syndrome, and hemifacial microsomia have been used to describe microtia with specific combinations of other craniofacial anomalies. Microtia is also observed with anomalies of postcranial structures. Statistical studies were performed on 297 patients with microtia and other anomalies to identify subgroups of patients representing previou...

Successful treatment of any orthodontic problem depends on an appropriate diagnosis of its etiology. It is well known that the genetics, as well as environmental factors, play an important role on the etiology of skeletal anomalies. Recent studies and advances in genetic sciences allowed the orthodontists to better understand the effects of genetics on the etiology of dentofacial characteristic...

Kabuki syndrome (KS) comprises a unique facial pattern with large palpebral fissures, malar flattening and everted lower eyelids, postnatal growth deficiency, skeletal anomalies, dermatoglyphic abnormalities, and mental retardation. Visceral anomalies such as congenital heart defects and urinary tract anomalies have also been reported.[1] KS was described independently by Niikawa et al.[2] and ...

Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...

Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...