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PubMed1976

Patterns of anomalies in children with malformed ears.

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.

Abnormalities, Multiple↗
PubMed1981

Case histories of neonates with congenital heart disease.

The rate of extracardiac malformation (ECM) associated with congenital heart disease (CHD) is high in neonates. 108 cases of 212 neonates with CHD had ECM (50.9%). Main ECMs were digestive system anomalies (36.1%), chromosomal aberrations (26.8%), respiratory system anomalies (21.3%), CNS anomalies (13.0%), and other (2.7%). Single lesion of left to right shunt accounted for 77.2% (61/79) of CHD with ECM from other than chromosomal aberrations. The prognosis of neonates with CHD without ECM was also studied. Total anomalous pulmonary venous connection, pure pulmonary atresia (PPA), pulmonary stenosis (PS), hypoplastic left heart syndrome are not generally associated with ECM, but the prognosis is poor. Coarctation complex which is sometimes associated with ECM has a poor prognosis in neonates. There is an increase of the survival rate in the patients with hypoxemia, such as PPA or severe PS, extreme tetralogy of Fallot, and tricuspid atresia, which can be managed with prostaglandin E1. PDA associated with respiratory distress syndrome is ideally treated with indomethacin. In recent years, mortality from PDA has decreased in neonates. The mortality rate during the neonatal period was 46.8% (51/109): 37.5% (30/80) died before surgical interventions and 72.4% (21/29) died during or after surgery. Half of neonatal deaths from CHD occurred within 3 days of admission. Thus, early detection, early diagnosis, and early treatment of neonates with CHD is most important.

Abnormalities, Multiple↗
PubMed1997

Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts.

Gene targeting experiments have shown that the murine Hoxa-13 and Hoxd-13 paralogous genes control skeletal patterning in the distal region of the developing limbs. However, both genes are also expressed in the terminal part of the digestive and urogenital tracts during embryogenesis and postnatal development. Here, we report the abnormalities occuring in these systems in Hoxa-13(-/-) and Hoxa-13/Hoxd-13 compound mutant mice. Hoxa-13(-/-) mutant fetuses show agenesis of the caudal portion of the Müllerian ducts, lack of development of the presumptive urinary bladder and premature stenosis of the umbilical arteries, which could account for the lethality of this mutation at mid-gestational stages. Due to such lethality, only Hoxa-13(+/-)/Hoxd-13(-/-) compound mutants can reach adulthood. These compound mutants display: (i) agenesis or hypoplasia of some of the male accessory sex glands, (ii) malpositioning of the vaginal, urethral and anal openings, and improper separation of the vagina from the urogenital sinus, (iii) hydronephrosis and (iv) anomalies of the muscular and epithelial layers of the rectum. Thus, Hoxa-13 and Hoxd-13 play important roles in the morphogenesis of the terminal part of the gut and urogenital tract. While Hoxa-13(-/-)/Hoxd-13(+/-) fetuses show severely impaired development of the urogenital sinus, double null (Hoxa-13[-/-]/Hoxd-13[-/-]) fetuses display no separation of the terminal (cloacal) hindgut cavity into a urogenital sinus and presumptive rectum, and no development of the genital bud, thereby demonstrating that both genes act, in a partly redundant manner, during early morphogenesis of posterior trunk structures.

Animals↗
PubMed1976

Trisomy of chromosome 20.

A neonate with ususual facial features and multiple congenital malformations expired at 4 hours of age. An autopsy revealed severe anomalies of the gastrointestinal system and spinal dysplasia. Cytogenetic evaluation of fibroblasts cultured from a lung biopsy revealed a karyotope of 47,XX,+20.

Abnormalities, Multiple↗
PubMed1985

Laryngeal cleft: report of eight patients and a review of the literature.

Eight cases of laryngeal cleft are presented and the literature on this topic is reviewed. Patients most frequently present with stridor, respiratory distress, or a history of choking while feeding. A number of cases are found at autopsy or surgery. Laryngeal cleft frequently is found associated nonspecifically with tracheoesophageal fistula, cleft lip and cleft palate, and congenital heart defects. Laryngeal cleft may be a component manifestation of several syndromes, eg, the G syndrome, and the Pallister-Hall syndrome of congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly. Surgical treatment is successful in more than 50% of the reported cases, depending on the extent of the cleft. Cleft larynx is most likely a developmental field defect, occurring coincidentally with separation of larynx and esophagus and closure of the larynx.

Abnormalities, Multiple↗
PubMed2003

Gastrointestinal malformations in two infants born to women with hyperthyroidism untreated in the first trimester.

We report two infants with gastrointestinal anomalies: one with esophageal atresia and tracheo-esophageal fistula and the other with biliary tree atresia, born to hyperthyroid women diagnosed and treated with methimazole after 14 weeks' gestation. Euthyroidism was documented in both infants. These cases raise the issue of whether untreated hyperthyroidism and not methimazole intake is the teratogen.

Abnormalities, Multiple↗
PubMed2004

Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth.

BACKGROUND: Cloacal exstrophy is a rare, complex defect of the entire pelvis and its contents that occurs during embryogenesis and is associated with severe phallic inadequacy or phallic absence in genetic males. For about 25 years, neonatal assignment to female sex has been advocated for affected males to overcome the issue of phallic inadequacy, but data on outcome remain sparse. METHODS: We assessed all 16 genetic males in our cloacal-exstrophy clinic at the ages of 5 to 16 years. Fourteen underwent neonatal assignment to female sex socially, legally, and surgically; the parents of the remaining two refused to do so. Detailed questionnaires extensively evaluated the development of sexual role and identity, as defined by the subjects' persistent declarations of their sex. RESULTS: Eight of the 14 subjects assigned to female sex declared themselves male during the course of this study, whereas the 2 raised as males remained male. Subjects could be grouped according to their stated sexual identity. Five subjects were living as females; three were living with unclear sexual identity, although two of the three had declared themselves male; and eight were living as males, six of whom had reassigned themselves to male sex. All 16 subjects had moderate-to-marked interests and attitudes that were considered typical of males. Follow-up ranged from 34 to 98 months. CONCLUSIONS: Routine neonatal assignment of genetic males to female sex because of severe phallic inadequacy can result in unpredictable sexual identification. Clinical interventions in such children should be reexamined in the light of these findings.

Abnormalities, Multiple↗
PubMed1995

Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype.

Gene targeting was used to create a null allele at the epidermal growth factor receptor locus (Egfr). The phenotype was dependent on genetic background. EGFR deficiency on a CF-1 background resulted in peri-implantation death due to degeneration of the inner cell mass. On a 129/Sv background, homozygous mutants died at mid-gestation due to placental defects; on a CD-1 background, the mutants lived for up to 3 weeks and showed abnormalities in skin, kidney, brain, liver, and gastrointestinal tract. The multiple abnormalities associated with EGFR deficiency indicate that the receptor is involved in a wide range of cellular activities.

Abnormalities, Multiple↗
PubMed1976

Congenital malformations associated with anencephaly and iniencephaly.

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.

Abnormalities, Multiple↗