Unilateral opaque lung with ipsilateral mediastinal shift is an uncommon cause of respiratory distress in newborn which can be found on simple radiograph of the chest. Pulmonary agenesis is a rare cause of unilateral opaque lung in the newborn. Nearly 50% cases of pulmonary agenesis are associated with other congenital defects including cardiovascular, skeletal, gastrointestinal or genitourinar...

We report on a 9 year old girl, born to consanguineous parents, with major microcephaly, cutaneous syndactyly of the toes, and moderate mental retardation with marked speech involvement. In addition, moderate dysmorphic features and skeletal abnormalities were noted. This multiple congenital anomalies/mental retardation pattern very much resembles that described by Filippi. This observation con...

We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case wit...

Agenesis of paranasal sinuses is an uncommon finding mainly seen in the frontal and maxillary sinuses. Agenesis of sphenoid sinuses is an extremely rare condition. In this article, we present an 18-year-old female patient suffering from headache and nasal obstruction without any skeletal or cranial anomalies. Axial, coronal and sagittal computed tomography revealed absent sphenoid sinuses. Surg...

Introduction Mucopolysaccharidosis IVA (MPS IVA) is a rare inherited metabolic disorder caused by galactosamine-6-sulfate sulfatase (GALNS) enzyme deficiency that leads to progressive lysosomal accumulation of glycosaminoglycans (GAGs). MPS IVA has a variable age of onset and variable severity. Clinical presentation is heterogeneous, and some cases are only mildly affected. Key clinical feature...

A new family with syndactyly type II or synpolydactyly is described with 16 affected members in six generations. No other major skeletal or extraskeletal malformations were present, but the association with minor local anomalies may be a common feature. Various metacarpal or metatarsal abnormalities may be part of this type of syndactyly. The family pedigree confirms the autosomal dominant mode...

KBG syndrome is a condition characterised by macrodontia, neurological disturbance, short stature, a distinct cranio-facial appearance, and skeletal anomalies. The authors describe what appears to be the first case of KBG syndrome reported from the Indian subcontinent. Meticulous evaluation of the dental findings helps to identify such cases which may otherwise remain undiagnosed. Further resea...

The likelihood of birth defects in orofacial tissues is high due to the structural and developmental complexity of the face and the susceptibility to intrinsic and extrinsic perturbations. Skeletal malocclusion is caused by the distortion of the proper mandibular and/or maxillary growth during fetal development. Patients with skeletal malocclusion may suffer from dental deformities, bruxism, te...

A polygamous Nigerian family with inherited skeletal cardiovascular anomalies (Holt-Oram syndrome) is described. Common to the affected individuals in this family were pectus excavatum and abnormalities of the thumbs. Atrial septal defect was proven by angiocardiography in one and clinically diagnosed in another member of the family. The mode of inheritance of the abnormalities in this family a...