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At least 451 records · Page 25Linked to original sources
PubMed1983

The oral manifestations of 4p- syndrome.

The oral manifestations of 80 reported cases of 4p- syndrome are analyzed and a new case is reported. Results indicate that the common pattern of cheilognathopharyngeal disorders in 4p- syndrome is an isolated cleft palate or a high-arched palate with micrognathia. Cases of cleft lip are only about 10% of the total. The significance of other reported aberrant phenomena cannot yet be estimated.

Abnormalities, Multiple↗
PubMed2000

Maternal life event stress and congenital anomalies.

We used data from a population-based case-control study to explore the relation between certain life events during the periconceptional period and several types of congenital anomalies. We ascertained cases from pregnancies ending in 1987-1989 and randomly selected controls from eligible liveborn infants. In telephone interviews, women reported deaths of anyone close to them. They also reported job losses or separations/divorces, for themselves or anyone close to them. Experiencing at least one stressful event during the periconceptional period was associated with a prevalence odds ratio of 1.4-1.5 for the delivery of infants with conotruncal heart defects, neural tube defects, and isolated cleft lip with or without palate. These associations tended to be restricted to women who were not obese and women with less than or equal to a high school education. This study suggests that women who experience stressful life events around the time of conception or early gestation may be at increased risk of delivering infants with certain congenital anomalies.

Congenital Abnormalities↗
PubMed1998

A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.

We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Because he had a similarly affected brother and his parents were cousins we suggest autosomal recessive inheritance, X-linked recessive inheritance cannot be excluded. Differential diagnosis from other syndromes with preaxial brachydactyly and hyperphalangism is presented.

Abnormalities, Multiple↗
PubMedDate not supplied

Genetic aspects of some orofacial anomalies.

The increased importance of congenital anomalies in childhood disease is stressed. It is suggested that treatment and research in congential craniofacial anomalies would benefit from centralized registration. Their clinical management should be delegated to centres with a multidisciplinary team. Some problems related to genetic counselling and identification of microforms are illustrated by cleft lip and palate. An account is given of some orofacial anomalies.

Abnormalities, Multiple↗
PubMed1983

Screening for occupational exposures and congenital malformations.

Since 1976 the Finnish matched-pair Register of Congenital Malformations has been linked to a special project which screens for associations between selected congenital malformations and chemical and physical exposures during early pregnancy. Case mothers and their referents are personally interviewed. Exposure data are quantitated blindly by a team of industrial hygienists and occupational health experts. An analysis of data from 1,047 pairs is now underway. The pairs consist of 289 defects of the central nervous system, 421 orofacial clefts, 200 selected structural malformations of the skeleton, and 137 selected cardiovascular defects. Exposure to organic solvents was associated with defects of the central nervous system in the initial two-year material. However this association was no longer detectable during the following three-year period. More pairs must be gathered before a reasonable judgment regarding the teratogenic potential of solvents becomes possible.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Russell-Silver syndrome: a study of 3 cases.

Russell-Silver syndrome, a syndrome of unknown etiology, is characterized by short stature of prenatal onset, triangular facies, asymmetry, variations in the pattern of sexual development, and other abnormalities, such as cafe-au-lait pigmentation, clinodactyly, and dental and oral abnormalities. We report three cases of Russell-Silver syndrome, all of which had dental anomalies. The clinical features of the syndrome are discussed.

Abnormalities, Multiple↗
PubMed1992

CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients.

We report on 12 Brazilian boys with the Optiz G/BBB syndrome associated with CNS midline anomalies, namely, Dandy-Walker anomaly (two patients), enlarged cisterna magna (four patients), enlarged 4th ventricle (four patients), and callosal a/hypoplasia (two patients). These signs clearly show the involvement of the CNS midline in the Opitz G/BBB syndrome.

Abnormalities, Multiple↗
PubMed2005

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature.

OBJECTIVES: To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography. METHODS: Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC syndrome with genitourinary anomalies and prenatal diagnosis was also reviewed. RESULTS: A 6-cm cyst in the right side of abdominal cavity was detected in a fetus of 24 weeks' gestational age with severe oligohydramnios and hydrops fetalis. The autopsy revealed bilateral renal dysplasia with a large nephrogenic cyst at the right side and markedly hypoplastic urinary bladder and pulmonary hypoplasia. The fetus also had ectrodactyly and syndactyly of hands and feet and ectodermal dysplasia and left cleft lip and palate. Ultrastructure of hair from scanning electron microscopy revealed no obvious abnormality. CONCLUSION: This is a rare case of fetal malformation partly detected prenatally. In order to detect this syndrome, careful ultrasound search for acral anomalies should be performed in cases with renal malformation or obstructive uropathy.

Abnormalities, Multiple↗
PubMed1987

A long time ago...

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Abnormalities, Severe Teratoid↗
PubMed2002

The p63 gene in EEC and other syndromes.

Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The p63 syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic split hand/foot malformation. The pattern of heterozygous mutations is distinct for each of these syndromes. The functional effects on the p63 proteins also vary between syndromes. In all of these syndromes, the mutation appears to have both dominant negative and gain of function effects rather than causing a simple loss of function.

Congenital Abnormalities↗