McKusick-Kaufman syndrome is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos, postaxial polydactyly and congenital cardiac disease. The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12. Diagnosis of this syndrome is based on clinical and imaging findings. In our paper, we have presented the first McKusi...

Introduction: Cervical rib is a supernumerary rib springing from one of the cervical vertebrae, usually the seventh. About 1 in 200 people are born with cervical rib. About 1 in 10 people who have a cervical rib develop symptoms of thoracic outlet syndrome (TOS). Aims: The aim of this study was to identify normal and abnormal anatomy of thoracic outlet using MRI in symptomatic costoclavicular c...

CONTEXT Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease. CASE REPORT The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) ...

Results Fetal abnormalities were observed in 45 (3. 7 %) of the cases. We were able to diagnose all the cases of hydrocephalus and ventriculomegaly, cranial menigocele, spina bifida, cleft lip and palate, micrognathia, cyst of lacrimal duct, hydronephrosis, renal agenesis simple renal cyst, clubhands, talipes, polydactyly, rib agenesis, diaphragmatic hernia, CCAM, atrial and atrioventricular se...

The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of pseudotrisomy 13 in three siblings suggesting autosomal recessive inheritance of this syndrome. Clinical overlap with hydrolethalus syndrome, Smith-Lemli-Opitz syndrome, Meckel syndrome, and Pallister-Hall syndrome is discussed.

Joubert's syndrome is indeed a rarity in clinical and radiological practice with a myriad of accompanying anomalies. Figure 1. Clinical photos of the patient showing post-axial polydactyly in the upper and lower limbs (A, B) and broad flat nasal bridge (C). Herein we present a case of an eight-month-old female infant who presented with delayed milestones, nystagmus and post-axial polydactyly (F...

Ellis Van Creveld (EVC) syndrome is one of the congenital anomalies not compatible with life. It is also known as chondroectodermal dysplasia. The most common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. It has an incidence of one in every 60,000 live births and equal sex predisposition. In our case, perinatal aut...

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (SmithLemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, post-axial polydactyly, renal abnormalities, mental retardation, pigmentary retinopathy and hypogenitalism. Diagnosis is rare in early childhood, and only few of the features are present at that age. This is because the disease is slow evolving. However, it is possible to find majority of the componen...