Search

In 1947 the term phakomatosis pigmentovascularis (PPV) was coined to represent the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. Four types of PPV have been recognized with type II (nevus flammeus and Mongolian spots) being the most common. Most early cases were of Asian or African descent. Many cases were subsequently associated with Sturge-Weber (S-W) and Klippel-Trenaunay (K-T) syndromes. Almost no literature reports have appeared in the genetic or dysmorphology literature! We present six cases of PPV in which five were either African, Asian or Hispanic, and five of six had an admixture of K-T and S-W. Four had macrocephaly, and one had microcephaly. Four had CNS abnormalities (three with hydrocephalus, one with Arnold-Chiari and one with polymicrogyria), three had mental retardation, and one had seizures. One each had thumb hypoplasia, hydronephrosis, glaucoma, coronal synostosis, and 3-4 finger syndactyly. It is our suspicion and hypothesis that in the presence of persistent, extensive and aberrant Mongolian spots, vascular abnormalities as are seen in K-T and S-W carry a worse prognosis. This may be particularly true either of children of Asian, Hispanic or African heritage or any individuals from darker pigmented skin groups., ((c) 2007 Wiley-Liss, Inc.)

Clinical and molecular studies are reported on a family with X-linked mental retardation (XLMR) in which there are eight affected males in three generations. Although the males have somatic manifestations, these are variable and in most cases do not allow clear distinction of affected and unaffected males. Affected males are shorter and have a smaller head circumference. Several also have a sloping forehead (5/8), hearing loss (3/8), cupped ears (2/8), and small testes (4/6). An LOD score of 4.41 with zero recombination was obtained at locus DXS1166 in Xq13.2. This family highlights the difficulty in classifying XLMR conditions as either nonsyndromic or syndromic because of the variable somatic manifestations observed in the affected males., (Copyright 1999 Wiley-Liss, Inc.)

Without an operative Birth Defects Registry, the state of Kentucky does not have a means of determining which of the nearly 6,000 syndromes and birth defects are the most common or the most rare, nor is there an ability to compare and contrast these data with data from other states. The authors reviewed 4,212 charts of patients evaluated between July 1981 and February 1995 by the Division of Genetics and Dysmorphology at the University of Kentucky Chandler Medical Center. Each patient's chart was categorized by diagnosis, and tables were generated to determine the most common diagnoses in the following groups: (1) multiple congenital anomaly syndromes, (2) teratogenic embryopathies, (3) chromosome anomalies, (4) isolated malformations, and (5) bone dysplasias. The most common multiple congenital anomaly syndromes were Down syndrome, Marfan syndrome, and trisomy 18. Fetal alcohol syndrome and infants of diabetic mothers were the most common embryopathies. Spina bifida (meningocele and myelomeningocele) was by far the most common isolated birth defect, followed by cleft lip/ palate and microcephaly. Achondroplasia was the most common bone dysplasia. These data support a number of previous assumptions including the universally high frequency of syndromes like Down syndrome and trisomy 18. The data also give credence to what was previously thought, but unproven, to be a high incidence of diabetic and alcohol embryopathies. The latter (fetal alcohol syndrome) has increased in frequency tremendously over the past 7 years. This is undoubtedly due in part to the overall increased awareness of the diagnosis in the medical community. However, it may also be due to the increased use of alcohol among Kentucky women. Other "rare" disorders, like diastrophic dysplasia, seem to be unusually the diagnosis in the medical community. However, it may also be due to the increased use of alcohol among Kentucky women. Other "rare" disorders, like diastrophic dysplasia, seem to be unusually the diagnosis in the medical community. However, it may also be due to the increased use of alcohol among Kentucky women. Other "rare" disorders, like diastrophic dysplasia, seem to be unusually

Beare-Stevenson cutis gyrata syndrome consists of skin furrows of corrugated appearance, acanthosis nigricans, craniofacial anomalies, particularly craniosynostosis and ear defects, anogenital anomalies, skin tags, and prominent umbilical stump. Four cases of this striking syndrome are reported. Together with two previously reported cases, the syndrome is delineated from the six known cases. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Craniosynostosis is present in four cases, with cloverleaf skull in three of these. Intrauterine growth has been normal in all cases. Performance and life expectation appear to be related to the presence or absence of cloverleaf skull. All cases observed to date have been sporadic. Increased paternal age suggests the possibility of an autosomal dominant mutation.

The Marfan syndrome is a common autosomal dominant disorder of connective tissue. Despite many years of intensive investigation, the primary genetic defect has not yet been identified. Reverse genetic methods, targeted at mapping this disease gene, have resulted in an initial report of linkage of the genetic locus for the Marfan phenotype in Finnish families to two polymorphic markers on chromosome 15. We have investigated four large multiplex American families with classic Marfan syndrome using standard genetic linkage methods. Our data confirm the assignment of the Marfan syndrome gene to chromosome 15, but establish a more centromeric location (defined by markers D15S25 and D15S1) as the most probable site for the genetic defect (lod score = 12.1, theta = 0.00). These data should facilitate identification and characterization of the Marfan syndrome gene and, in selected families, have immediate application to diagnosis of equivocal cases or prenatal counseling.

We are reporting on fifteen members of a five-generation family (sixty-three members) who had an autosomal dominant osseous disorder that was characterized by tarsal and carpal coalition, symphalangism, short first metacarpals, and abnormalities of the elbow, including humeroradial fusion. This family is similar to the one reported by Fuhrmann et al.