ABSTRACT
Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature.
Subject(s)
Anophthalmos/complications , Kidney/abnormalities , Limb Deformities, Congenital/complications , Consanguinity , Ethnicity , Humans , Infant , Italy , Male , Syndactyly/complications , Waardenburg Syndrome/diagnosisABSTRACT
Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.
Subject(s)
Fibrous Dysplasia, Polyostotic/genetics , GTP-Binding Protein alpha Subunits, Gs , Mutation , Pseudohypoparathyroidism/genetics , Chromogranins , Exons , Female , Fibrous Dysplasia, Polyostotic/diagnosis , Fingers/abnormalities , Heterozygote , Humans , Infant , Metacarpus/abnormalities , Phenotype , Polymerase Chain Reaction , Pseudohypoparathyroidism/diagnosis , Toes/abnormalitiesABSTRACT
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.
Subject(s)
Craniofacial Abnormalities/diagnosis , Magnetic Resonance Imaging , Skin Abnormalities/diagnosis , Skin Diseases, Vascular/diagnosis , Telangiectasis/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Brain/pathology , Child , Child, Preschool , Craniofacial Abnormalities/genetics , Developmental Disabilities/diagnosis , Developmental Disabilities/genetics , Female , Follow-Up Studies , Functional Laterality/genetics , Growth Disorders/diagnosis , Growth Disorders/genetics , Humans , Infant , Infant, Newborn , Phenotype , Skin Abnormalities/genetics , Skin Diseases, Vascular/genetics , Syndactyly/diagnosis , Syndactyly/genetics , Syndrome , Telangiectasis/geneticsABSTRACT
Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and mental retardation. It is caused by mutations in the zinc finger homeo box 1B gene, ZFHX1B (SIP1). To date, 68 deletion/mutation-positive cases have been reported. Genitourinary anomalies are common in MWS. Here we report that hypospadias is common in males with this syndrome. In 39 patients where this information was available, hypospadias was present in 46% of patients (18/39). In the 3 Italian male cases reported here, hypospadias was always present. MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype.
