it is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. this fatal disorder occur in both sexes and all races. in most circumstances the newborn die soon after birth also it is known as harlequin fetus, alligator baby or keratosis diffusa fatalis. because of its rarity, we report 2 cases of this disorder, here.

The inheritance of spontaneous dizygotic (DZ) twinning was investigated in 1,422 three-generation pedigrees ascertained through mothers of spontaneous DZ proband twins. DZ twinning was modelled as a trait expressed only in women. The penetrance was modelled first as a parity independent and secondly as parity dependent. The observed frequencies of maternal and paternal grandmothers with DZ twin...

von Willebrand disease type 3 (VWD3) is a rare but the most severe form of von Willebrand disease; it is due to almost complete lack of von Willebrand factor activity (VWF:RCo). It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms. In the laboratory, this is characterised by undetectable VWF:Ag, VW...

The renal proximal tubular epithelium of MCC strain of mastomys (Praomys coucha) exhibited a number of cytoplasmic vacuoles after conventional paraffin-embedding procedures. These vacuoles were strongly PAS-positive in cryostat sections. Ultra-structurally, they were double membrane-bound structures filled with myelin figures and acid phosphatase-positive electron-dense matrix. Immunofluorescen...

A Japanese family with progressive spinal muscular atrophy is presented. Seven members in two generations were affected and the mode of inheritance was probably an autosomal recessive trait. A characteristic feature of this family was the presence of oculopharyngeal involvement in some of the affected members, in addition to the variable distribution of muscular atrophy among each of the affect...

Urate uroliths belong to the purine family of uroliths and are the third most common urolith type in dogs and cats. In dalmatians, an autosomal recessive trait is responsible for hyperuricosuria and a predisposition to urate urolithiasis. In other dog breeds and in cats, urate uroliths are predominantly associated with liver disease, specifically portosystemic vascular anomalies. Idiopathic ura...

Rabbits obtained from a South African rabbit breeder exhibited deformities of the distal forelimbs. The clinical, radiological and histological presentation of mid-antebrachial valgus formation (a.k.a distal foreleg curvature) in these rabbits was consistent with an autosomal recessive trait associated with a chondrodystrophic lesion of the distal ulna epiphysis 1st described in the 1960s. The ...

Veterinarians have recognised a nonpruritic skin disease in the Golden retriever breed characterised by excessive scaling of large, variably pigmented flakes of skin in otherwise healthy dogs. This prospective case series describes clinical, histopathological, ultrastructural and genetic features of this cornification defect in 17 affected dogs. The condition affects young dogs of either sex an...

FX is a vitamin K-dependent coagulation protease critically essential for the coagulation cascade. FXD (congenital deficiency of factor X) is a rare coagulation disorder that inherited as an autosomal recessive trait. Here we reported a patient with bleeding diathesis from infant. The proband with pseudotumor in cerebral articular and cavity were identified as encapsulated hematocele ultimately...

Primary ciliary dyskinesia (PCD) is a multisystem disease characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis and male subfertility, associated in about 50% patients with situs inversus totalis (the Kartagener syndrome). The disease phenotype is caused by ultrastructural defects of respiratory cilia and sperm tails. PCD is a heterogenetic disorder, usually inherit...