Albright's hereditary osteodystrophy.

Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family.

OMENS-plus syndrome.

The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl presented with hemifacial microsomia, digital abnormalities and pancreatitis.

Pantothenate kinase associated neurodegeneration (Hallervorden - Spatz syndrome).

Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene.

Gerodermia Osteodysplastica.

Gerodermia Osteodysplastica is a rare autosomal recessive connective tissue disorder included in the cutis laxa syndromes. Twenty five cases have been reported in the world literature to date. The authors report the first case from our country, a 13 year old female having phenotypic and radiological features suggestive of this genetic disorder.