In the course of time a variety of names have been given to Sterne's 'dwarf apple-trees': primordial dwarfism (von Hansemann, 1902), ateliosis (Gilford, 1904, 1911), microsomie essentielle (Levi, 1910), nannosomia (or nanosomia) vera, constitutional, proportionate, genetic, and intra-uterine (Russell, 1954) dwarfism. Recently Seckel (1960) has shown that a distinct variety of low birth weight d...

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones re...

CHARGE syndrome is an autosomal dominant congenital anomaly syndrome, and the causative gene is CHD7. We report a patient with a CHD7 mutation who presented with juvenile muscular atrophy of a unilateral upper extremity, a presumably heterogeneous condition that is also known as Hirayama disease. This association has not been previously described. Weakness and atrophy of the hands should be car...

The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal re...

Parry Romberg syndrome (PRS), also referred to as progressive hemifacial atrophy, facial hemiatrophy, or idiopathic was first described by C and M Romberg.1 It manifests in the two decades morphologically normal-born individuals. commonly affects one more dermatomes trigeminal nerve territory. has an early onset of ophthalmic neurological involvement a variable maxillo-facial cardiac involvemen...

The term "parrot beak nail" describes a morphologic change of the nail plate characterized by excessive forward curvature. It may be associated with systemic disease or, most commonly, occurs as an idiopathic finding complicated by delayed nail plate trimming. The characteristics of parrot beak nails in ten men are described, and the features of this acquired nail deformity are reviewed. Of the...

Background: Oculo-palato-cerebral syndrome is an extremely rare condition characterized by various features, including low-birth weight, microcephaly, cerebral atrophy, mild-to-severe developmental delay, cleft palate, persistent hyperplastic primary vitreous, microphthalmia, small hands and feet, joint laxity, and large ears with thick helices. Diagnosis of this syndrome is based on the clinic...