The Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, post-axial polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neuro...

Background Among the infertility disorders, polycystic ovary syndrome (PCOS) is one of the most common, affecting approximately 4 million women in the U.S. and more than 100 million women worldwide.1 PCOS is characterized by both reproductive and metabolic dysfunctions with familial clustering.2 From a reproductive perspective, PCOS is a heterogeneous syndrome characterized by hyperandrogenism ...

Trichothiodystrophy comprises a heterogeneous group of autosomal recessive entities. This fact gives rise to different interrelated neuroectodermal disorders. From a structural point of view these features are the result of the low tissue sulfur content. We report a case of trichothiodystrophy initially classified as Tay syndrome that based on clinical features, complementary exams as well as o...

POEMS syndrome is a unique clinical entity, the diagnosis of which is made when polyneuropathy and monoclonal gammopathy occur together, associated with other changes such as organomegaly, endocrinopathy, skin changes and papilledema. Cutaneous manifestations are heterogeneous, with diffuse cutaneous hyperpigmentation, hemangiomas and hypertrichosis occurring more frequently. We report the case...

A female with the Brown-Vialetto-Van Laere syndrome is described. The patient's father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it cou...

22q 11 deletion syndrome (22q11DS; Online Mendelian inheritance in man #192430) also known as velocardiofacial or DiGeorge syndrome, is a genetic disorder resulting from a hemizygous microdeletion of the long arm of chromosome 22. It has an estimated prevalence of 1 out of 4000 live births and results in a heterogeneous clinical presentation that is irrespective of deletion size and can be asso...

Cornelia De Lange syndrome is a rare genetically heterogeneous and sporadic syndrome, with an estimated prevalence of 1 in 10,000 to 30,000. The disorder may present many complications during anesthesia due to cardiac, gastrointestinal and airway anomalies. We report a case of an ex premature toddler presenting for repair of a cleft palate. Postoperatively she had respiratory distress, successf...

Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thou...

The KH domain is an evolutionarily conserved sequence motif present in many RNA-binding proteins, including the pre-mRNA-binding (hnRNP) K protein and the fragile X mental retardation gene product (FMR1). We assessed the role of KH domains in RNA binding by mutagenesis of KH domains in hnRNP K and FMR1. Conserved residues of all three hnRNP K KH domains are required for its wild-type RNA bindin...

INTRODUCTION Möbius syndrome is a heterogeneous congenital disorder that is linked to bilateral palsies of the cranial nerves VI and VII, resulting in congenital facial paralysis sometimes associated with impaired ocular abduction. CASE REPORT We present the case of a 44-year-old woman with Möbius syndrome and inferior recurrent keratitis secondary to scleral show in both eyes. We decided to ...