sodium-ethylxanthate and Abnormalities--Multiple

Cloacal exstrophy, one of the most severe congenital anomalies compatible with life, occurs in up to 1 in 200,000 lives births. The condition affects nearly every major organ system with severe neurologic, skeletal, gastrointestinal, and genitourinary ramifications. With increased understanding of the anatomy and embryology combined with refinements in prenatal diagnosis and postnatal care, there is now near-universal survival of patients with cloacal exstrophy. Functional and cosmetic outcomes have improved with modifications in surgical technique. However, debate continues regarding the issue of gender identity, and long-term data are still accruing with respect to the best strategy for management. Despite the extensive malformations noted, many patients have gone on to live fruitful lives.

Topics: Abnormalities, Multiple; Anus, Imperforate; Digestive System Abnormalities; Female; Hernia, Umbilical; Humans; Male; Musculoskeletal Abnormalities; Nervous System Malformations; Prenatal Diagnosis; Scoliosis; Sex; Sexual Dysfunction, Physiological; Urogenital Abnormalities

We report on monozygotic (MZ) twins who were discordant for phenotypic sex and Ullrich-Turner syndrome (UTS). The nonviable female was hydropic with cystic hygromas, ventricular septal defect, bicuspid aortic valve, polysplenia, intestinal malrotation, and small ovaries. The male was phenotypically normal. The monochorionic, diamniotic placenta had hydropic changes limited to the UTS infant's side. Skin samples from the infants and blood from their parents were obtained for cytogenetic and molecular analysis. Karyotypes of the twins were 45,X and 46,XY. Quinacrine polymorphisms on 7 chromosomes and RFLP analysis at 8 loci showed complete identity. MZ twins discordant for phenotypic sex have been described previously. Most of these show evidence of mosaicism in a 45,X patient with a normal 46,XY cell line, and a normal 46,XY male. While the issue of mosaicism in our case cannot be fully resolved, no mosaicism was found in 50 cells analyzed cytogenetically from each culture or by PCR analysis of a Y-specific sequence. The twins probably originated from either postzygotic nondisjunction or anaphase lag, followed or accompanied by twinning. The discordant placental morphology suggests an embryonic origin of at least part of the placental mesenchymal core.

Topics: Abnormalities, Multiple; Chorionic Villi; Chromosome Deletion; Diseases in Twins; DNA Fingerprinting; DNA Probes; Female; Humans; Hydrops Fetalis; Infant, Newborn; Male; Mitosis; Mosaicism; Placenta Diseases; Polymorphism, Restriction Fragment Length; Pregnancy; Sex; Turner Syndrome; Twins, Monozygotic; X Chromosome

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Brain Diseases; Central Nervous System Cysts; Choroid Plexus; Chromosomes, Human, X; Corpus Callosum; Female; Genes, Dominant; Humans; Infant, Newborn; Magnetic Resonance Imaging; Sex; Sex Chromosome Aberrations; Spasms, Infantile; Syndrome

A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.

Topics: Abnormalities, Multiple; Age Determination by Skeleton; Bone Diseases, Developmental; Child, Preschool; Face; Female; Humans; Sex; Syndrome

Eighty-eight women with Müllerian agenesis underwent vaginal dilatation (n = 21) and/or vaginal creation using a modified McIndoe technique (n = 79). Patient and family counseling was considered an essential component of the therapy regimen. An initial trial of vaginal dilatation was successful in 9 of 21 patients (43%). Failure was associated with a prior vaginal exploration in eight women. All of the 79 women experienced satisfactory sexual activity and were satisfied with vaginal depth following vaginal creation using a split thickness graft technique. However, anatomic success, as judged by the surgeon, was noted in 72 patients (91%). Our experience suggests an initial trial of vaginal dilatation coupled with careful instruction and family counseling is appropriate in the motivated patient. However, vaginoplasty using a split thickness graft technique is highly successful and should be offered to those patients unwilling or unable to obtain an adequate neovagina with dilatation.

Topics: Abnormalities, Multiple; Adolescent; Adult; Counseling; Dilatation; Female; Humans; Mullerian Ducts; Prostheses and Implants; Sex; Vagina

The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in those without. The most frequent single malformations were: hydronephrosis (8%), cleft palate (8%), diaphragmatic hernia (5%), exomphalos (5%), hare lip (4%), and horseshoe kidney (4%). It is suggested that the presence of other malformations in anencephaly or iniencephaly may imply some aetiological heterogeneity.

Topics: Abnormalities, Multiple; Anencephaly; Bone and Bones; Central Nervous System; Digestive System Abnormalities; England; Female; Genitalia; Heart Defects, Congenital; Humans; Infant, Newborn; Male; Retrospective Studies; Sex; Spinal Dysraphism

Topics: Abnormalities, Multiple; Anencephaly; Cleft Lip; Cleft Palate; Congenital Abnormalities; Diseases in Twins; Down Syndrome; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Hydrocephalus; Male; Sex; Spinal Dysraphism

Topics: Abnormalities, Multiple; Cryptorchidism; Dwarfism; Female; Humans; Intelligence; Intelligence Tests; Male; Personality Development; Psychopathology; Sex; Turner Syndrome

Topics: Abnormalities, Multiple; Child; Chromosome Aberrations; Chromosome Disorders; Cytogenetic Analysis; Genetics, Medical; Humans; Infant; Infant, Newborn; Male; Malignant Hyperthermia; Pathology; Pterygium; Sex; Sex Chromatin; Skin Abnormalities; Testis; Turner Syndrome