A new case of MOMO syndrome
‘Crommelin-type’ symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)
Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia
A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism
Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?
Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly
Focal segmental glomerulosclerosis in a female patient with Donnai–Barrow syndrome
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome
Prenatal and postnatal growth retardation, depressed nasal tip, oligodactyly, and mental retardation
Distal 5q deletion with associated parietal foramina
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea
Zimmermann–Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures