Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The p63 syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic...

A 3-year-old boy was admitted to the emergency department with right lower limb pain, edema, and livedoid discoloration that occurred immediately after intramuscular injection of benzathine penicillin. The patient was diagnosed with Nicolau syndrome, a rare complication of intramuscular injection presumed to be related to the inadvertent intravascular injection. It was first reported following ...

Cornelia de Lange syndrome (CdLS) is a multisystem malformation syndrome. There is wide clinical variability in this disorder. This disorder is relatively uncommon and characterised by series of malformations which includes skeletal, craniofacial, gastrointestinal and cardiac malformations. The main clinical feature includes growth retardation, limb abnormalities, mental retardation, developmen...

Holt Oram Syndrome (HOS) falls in rare prevalence category with probability of 0.7 100,000 live births. It is a autosomal dominant multiple malformation syndrome characterized by abnormalities affecting hands, wrists, arms,congenital heart defects and/or conduction problems. Genetic mutations observed TBX5 gene attributed as the main cause HOS. Our patient his late 40s was diagnosed Syndrome. H...

Camptomelic dwarfism or dysplas1a is a rare syndrome in which· short stature is associated with angulation and bowing of the lower limb Long bones, hypoplasia of the facial bones and scapula and various other skeletal and respiratory and nervous system. A 9 day old girl with this syndrome was admitted in our peiatric Department, Loghman Hospital medical center because of Dwarfism and hypotonia....

Anomaly in the number of teeth may manifest as a supernumerary tooth. Occurrence of a supernumerary tooth in the mandibular incisor region is uncommon. This report presents a rare case of five mandibular permanent incisors in a nine year old non-syndrome healthy male child. Clinical and radiographic examination revealed the presence of a supplemental (type of supernumerary) permanent incisor in...

BACKGROUND Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callo...

OBJECTIVE We review the fibular free flap surgical procedure to illustrate the usefulness of preoperative lower limb MR angiography and to show how calf vascular anatomy on MR angiography affects patient surgical management. CONCLUSION With its high positive predictive value and sensitivity, preoperative MR angiography can improve the chances of a successful outcome at the recipient mandibula...

Klippel-Trenaunay-Weber syndrome is a rare cutaneous vascular disorder characterized by the presence of multiple hemangiomata, arteriovenous fistulas, and limb hypertrophy. We report the prenatal sonographic findings in a case of Klippel-Trenaunay-Weber (KTW) syndrome including fetal limb hypertrophy and large subcutaneous cystic lesions. Prenatal diagnosis is possible by ultrasound examination...