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
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
We report on a series of 453 mentally retarded subjects investigated for fragile X syndrome from 1982 to July 1995. The 22% rate of efficiency of FRAX positivity indicated a significant preselection by the clinicians. However, this rate dropped to 11% in the last year. Since 1992, Southern blot analysis was extended to include family members of the 87 positive subjects, for a total of 442 individuals examined with the probe StB12.3. In addition to premutated (118), fully mutated (148), and pre/full mutation mosaic subjects (27), 14 atypical cases were found. Some of these cases are described in more detail. In particular, we report on the hybridization and polymerase chain reaction data of 2 fragile X subjects with full mutation and a 2.8-kb allele and 1 with full mutation and a 2.4-kb allele. An intellectually normal male with 18% of fraXq27.3 and an unmethylated full mutation is also described. Finally, a mentally retarded child with only a lower allele of 2.7 kb is presented.
