The Mohr-Claussen syndrome or oro-facial-digital syndrome type II (OFD-II)] is characterised by tongue lobulation, midline cleft lip, high arched or cleft palate, broad nasal root with wide bifid nasal tip, hypertelorism, micrognathia, brachydactyly, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss and normal intelligence. In view of the different modes of inhe...

Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...

According to the literature, thoracic outlet syndrome (TOS) secondary to the malunion of displaced fractures of the clavicle is rare. Various surgical methods, including simple neurolysis, resection of the first rib or clavicle and corrective osteotomy, have been reported. We report a case of TOS secondary to malunion of the clavicle that was treated by an anterior and middle scalenectomy witho...

Thoracic outlet syndrome (TOS) due to thoracic trauma is a rare disorder. Surgical treatment of TOS is especially rare. We report here a case of traumatic TOS caused by right 1st rib and clavicular fracture after a traffic accident. The patient underwent first rib resection and open reduction with fixation of the clavicle through axillary and supraclavicular incisions.

Sonic hedgehog plays an essential role in maintaining hepatoblasts in a proliferative non-differentiating state during embryogenesis. Transduction of the Hedgehog signaling pathway is dependent on the presence of functional primary cilia and hepatoblasts, therefore, must require primary cilia for normal function. In congenital syndromes in which cilia are absent or non-functional (ciliopathies)...

Joubert syndrome is a rare autosomal recessive inherited disease associated with many signs and symptoms. (JS) was first discovered by Marie in 1969. Joubert’s presents as low muscle tone (hypotonia), have difficulty coordinating movements (ataxia), episodes of fast or slow breathing abnormal eye movement (ocular motor apraxia). Developmental delay intellectual disability generally accompany. A...

Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acha...

ELLIS-van CREVELD SYNDROME IN A NIGERIAN WOMAN: A CASE STUDY 1 2 1 1 AHMADU MS, TALLEMA, AHIDJO A, TAHIR AA Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare, autosomal recessive th disorder that was first described by Ellis and van Creveld in the mid-20 century.The syndrome is characterized by a tetrad of chondrodystrophy, post axial polydactyly, and hidrotic ectodermal...

In 1938, Jarcho and Levin1 first described a syndrome of congenital abnormalities affecting the spine and the thorax. The syndrome described a spectrum of radiological and skeletal anomalies including abnormal vertebral segmentation or formation defects, rib deformities and short trunk dwarfism. In 1978, Solomon et al2 subdivided patients with the above features into 2 distinct phenotypes: spon...