Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They are admitted to explore short stature. The initial clin...

Congenital cystic adenomatoid malformation (CCAM) of the lung is an uncommon anomaly that arises from excessive disorganised proliferation of tubular bronchial structures excluding the alveoli. These are believed to represent focal pulmonary dysplasia because skeletal muscle may be identified from within the cyst wall. This report describes a case of an infant operated for presumed diagnosis of...

Agenesis of the corpus callosum (ACC) is a common brain anomaly with a birth incidence of at least 1 in 4,000. ACC can occur as an isolated malformation or as a component of a syndrome. Here, we report on an autosomal recessive syndrome with ACC, optic coloboma, craniofacial dysmorphism, skeletal anomalies, and intractable seizures in a brother and sister from a consanguineous family. Homozygos...

Maternal diabetes has an established aetiological link with developmental abnormalities, and the prevalence of major congenital malformations in the offspring of affected women is approximately 4-8%, compared to the general population risk of about 3%. Hallucal polydactyly, particularly with an unusual proximal placement of the extra digit, has been reported as a distinctive anomaly in diabetic...

The causes of congenital hydrocephalus vary widely and have an important effect in determining the future counseling of affected cases. We analyzed the postmortem findings of 49 autopsies diagnosed as hydrocephalus to find the causes and related conditions. The cases were collected during the last 10 years (1981-1990). The cases consisted of 25 cases associated with various congenital malformat...

The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downward displacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into the spinal canal. This malformation is one of causative factor of death in neonates and infants. A thorough understanding of the direct and indirect sonographic findings is necessary for diagnosis of Chiari II ma...

The Smyd1 gene encodes a lysine methyltransferase specifically expressed in striated muscle. Because Smyd1-null mouse embryos die from heart malformation prior to formation of skeletal muscle, we developed a Smyd1 conditional-knockout allele to determine the consequence of SMYD1 loss in mammalian skeletal muscle. Ablation of SMYD1 specifically in skeletal myocytes after myofiber differentiation...

the arnold-chiari malformation is a congenital abnormality of cns, characterized by downward displacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into the spinal canal. this malformation is one of causative factor of death in neonates and infants. a thorough understanding of the direct and indirect sonographic findings is necessary for diagnosis of chiari ii ma...

S plit hand/foot malformation type I (SHFM1, OMIM *183600) is an autosomal dominant developmental disorder of limb formation that results in the absence of the central digital rays, deep median clefts, and syndactyly of the remaining digits. Patients with SHFM1 harbour deletions, translocations, and inversions in chromosomal region 7q21–q22. The deletions at 7q21–q22 encompass different genomic...