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At least 487 records · Page 27Linked to original sources
PubMed1994

Oto-palato-digital syndrome type II in two unrelated boys.

We report on two boys with oto-palato-digital syndrome type II, characterized by growth retardation, bowed long bones, missing or hypoplastic fibulae, sclerosis of the skull base and wavy, irregular clavicles and ribs. The facial appearance is distinctive due to prominent forehead, widely spaced eyes, antimongologid slant of palpebral fissures, flattened nasal bridge and retrogenia. The mother of one patient showed a mild manifestation of oto-palato-digital syndrome type II. Only about 20 cases of this rare X-linked disorder have been reported so far. The similarities and dissimilarities to oto-palato-digital syndrome type I are discussed.

Abnormalities, Multiple↗
PubMed2002

Recent insights into kidney diseases associated with glomerular cysts.

Glomerular cysts can exist in the context of several different kidney diseases. Advances in the last few years have begun to unravel the genetic bases and pathogenesis of some of these entities, many of which have an origin in abnormal development. In this review, we highlight recent insights into three types of disease associated with glomerular cysts: (1) mutations of the hepatocyte nuclear factor 1beta (HNF-1beta)in the recently described renal cysts and diabetes syndrome, (2) mutations of OFD1in the oral facial digital syndrome type 1 and (3) the role of fetal urinary tract obstruction.

Abnormalities, Multiple↗
PubMed1990

[Clinical orofacial symptoms--guide to diagnosis of syndromes].

Clinical orofacial symptoms of the following genetic syndromes are described: Apert, Cornelia de Lange, Crouzon, Mongolism, Cleidocranial dysostosis, Oral-facial-digital, Treacher-Collins, and Van der Woude. Characteristic cases are illustrated.

Abnormalities, Multiple↗
PubMed2005

An overview of oral frena and their association with multiple syndromic and nonsyndromic conditions.

The development of abnormal oral frena is an important diagnostic feature of several syndromic states. Five such syndromes are reviewed which include Ehlers-Danlos syndrome, infantile hypertrophic pyloric stenosis, holoprosencephaly, Ellis-van Creveld syndrome, and oral-facial-digital syndrome. Each syndrome exhibits relatively specific frena abnormalities, ranging from multiple, hyperplastic, hypoplastic, or absent. 1-8 In addition to abnormal oral frena observed in syndromic conditions, anomalous frena are encountered without other associated phenotypic features of genetic or chromosomal states. 9 This paper is a review of the above stated frena deformities and their management.

Abnormalities, Multiple↗
PubMed2004

Methanol exposure during gastrulation causes holoprosencephaly, facial dysgenesis, and cervical vertebral malformations in C57BL/6J mice.

BACKGROUND: Exposure of pregnant outbred CD-1 mice to methanol during the period of gastrulation results in exencephaly, cleft palate, and cervical vertebra malformations [Rogers and Mole, Teratology 55: 364, 1997], while inbred C57BL/6J mice are sensitive to the teratogenicity of ethanol. C57BL/6J fetuses exhibit the holoprosencephaly spectrum of malformations after maternal exposure to ethanol during gastrulation, but the sensitivity of C57BL/6J mice to methanol-induced teratogenesis has not been previously described. METHODS: Pregnant C57BL/6J mice were administered two i.p. injections totaling 3.4 or 4.9 g/kg methanol or distilled water four hrs apart on gestation day 'GD' 7. On GD 17, litters were examined for numbers of live, dead and resorbed conceptuses, fetuses were weighed as a litter and examined externally, and all fetuses were double stained for skeletal analysis. RESULTS: No maternal intoxication was apparent, but the high dosage level caused a transient deficit in maternal weight gain. The number of live fetuses per litter was reduced at both dosages of methanol, and fetal weight was lower in the high dosage group. Craniofacial defects were observed in 55.8% of fetuses in the low dosage group and 91.0% of fetuses in the high dosage group, including micro/anophthalmia, holoprosencephaly, facial clefts and gross facial angenesis. Skeletal malformations, particularly of the cervical vertebrae, were observed at both dosages of methanol, and were similar to those previously reported in the CD-1 mouse following methanol exposure. CONCLUSIONS: The types of craniofacial malformations induced in the C57BL/6J mouse by methanol indicate that methanol and ethanol have common targets and may have common modes of action.

Abnormalities, Drug-Induced↗
PubMed2000

Dental and oral lesions in two patients with focal dermal hypoplasia (Goltz syndrome).

This report is concerned with the manifestations associated with focal dermal hypoplasia (Goltz syndrome) in two patients. Goltz syndrome is a rare polydysplastic syndrome. Systemic findings were similar to those previously reported in the literature and are illustrated. More detailed descriptions of the dental abnormalities are presented. The possibility of root resorption being a previously unreported part of the syndrome is hypothesised.

Adolescent↗
PubMed2006

Alpha thalassaemia-mental retardation, X linked.

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha-thalassaemia is not always present. This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. ATRX mutations cause diverse changes in the pattern of DNA methylation at heterochromatic loci but it is not yet known whether this is responsible for the clinical phenotype. The diagnosis can be established by detection of alpha thalassaemia, identification of ATRX gene mutations, ATRX protein studies and X-inactivation studies. Genetic counselling can be offered to families. Management is multidisciplinary: young children must be carefully monitored for gastro-oesophageal reflux as it may cause death. A number of individuals with ATR-X are fit and well in their 30s and 40s.

Abnormalities, Multiple↗
PubMed1991

Variabilities in prenatal development of orofacial system.

Reliable information on embryonic and fetal development of the human oro-facial system is meager. Much of the data available at present is not entirely reliable, because it was derived from a small number of specimens. An embryological approach with human materials is important for establishing a normal standard of development including individual variabilities as well as clarifying the embryogenesis and etiology of defective development (Nishimura et al. 1977). It is important in human craniofacial embryology to know the variabilities, that is, individual differences in developmental phenomena of the oro-facial region during human prenatal life. In recent times the importance of morphologic investigations of human development has received less emphasis. Yet, without thorough knowledge of the basic facts of prenatal human development, erroneous assumptions can be made in more dynamic approaches and lead investigators astray. Knowledge of prenatal development of human orofacial structures and some of their deviations will therefore be welcomed by many basic scientists and clinicians in the field of facial clefts and other craniofacial malformations. The author was engaged in the collection and systematic study of human embryos and fetuses with Dr. Hideo Nishimura, Emeritus Professor of Kyoto University, Kyoto, Japan, and has been studying the normal and abnormal development during prenatal life. Several results obtained from the study of a large number of specimens are presented laying stress on the orofacial development.

Cleft Lip↗
PubMed1995

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

Velo-cardio-facial syndrome (VCFS) is a common genetic disorder among individuals with cleft palate and is associated with hemizygous deletions in human chromosome 22q11. Toward the molecular definition of the deletions, we constructed a physical map of 22q11 in the form of overlapping YACs. The physical map covers > 9 cM of genetic distance, estimated to span 5 Mb of DNA, and contains a total of 64 markers. Eleven highly polymorphic short tandem-repeat polymorphic (STRP) markers were placed on the physical map, and 10 of these were unambiguously ordered. The 11 polymorphic markers were used to type the DNA from a total of 61 VCFS patients and 49 unaffected relatives. Comparison of levels of heterozygosity of these markers in VCFS patients and their unaffected relatives revealed that four of these markers are commonly hemizygous among VCFS patients. To confirm these results and to define further the breakpoints in VCFS patients, 15 VCFS individuals and their unaffected parents were genotyped for the 11 STRP markers. Haplotypes generated from this study revealed that 82% of the patients have deletions that can be defined by the STRP markers. The results revealed that all patients who have a deletion share a common proximal breakpoint, while there are two distinct distal breakpoints. Markers D22S941 and D22S944 appear to be consistently hemizygous in patients with deletions. Both of these markers are located on a single nonchimeric YAC that is 400 kb long. The results also show that the parental origin of the deleted chromosome does not have any effect on the phenotypic manifestation.

Abnormalities, Multiple↗
PubMed1990

EEC syndrome: report on 20 new patients, clinical and genetic considerations.

We report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.

Abnormalities, Multiple↗
PubMed1995

A familial Xp+ chromosome, dup (Xq26.3-->qter).

A maternally transmitted Xp+ chromosome was associated with an abnormal phenotype, including developmental delay and short stature, in two male cousins and their 12 year old aunt. The respective mothers were not mentally impaired but had short stature. The G banding pattern identified the extra chromosome segment as a repeat of Xq26.3-->qter attached to an apparently intact Xp22.3 sub-band, so the Xp+ chromosome may be described as rea(X)(Xqter-->p22.3::Xq26.3-->Xqter). The rearranged chromosome was late replicating in 97 to 100% of the metaphases in the mothers but it was early replicating in 43% of the lymphocytes in the mentally defective female (n = 100 cells/subject). Fluorescence in situ hybridisation using X and Y chromosome paints, as well as cosmids A and 1A1 specific for loci within Xq28, confirmed both the identity of the extra segment and the entirety of the Xp pseudoautosomal region. Therefore, the phenotypic consequences in this family can be related to the Xq26.3-->qter functional disomy allowing for the effects of X inactivation in the female carriers.

Abnormalities, Multiple↗
PubMed2003

P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome.

p63, a p53 family member, is required for craniofacial and limb development as well as proper skin differentiation. However, p63 mutations associated with the ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (Hay-Wells syndrome) were found in the p63 carboxyl-terminal region with a sterile alpha-motif. By two-hybrid screen we identified several proteins that interact with the p63alpha carboxyl terminus and its sterile alpha-motif, including the apobec-1-binding protein-1 (ABBP1). AEC-associated mutations completely abolished the physical interaction between ABBP1 and p63alpha. Moreover the physical association of p63alpha and ABBP1 led to a specific shift of FGFR-2 alternative splicing toward the K-SAM isoform essential for epithelial differentiation. We thus propose that a p63alpha-ABBP1 complex differentially regulates FGFR-2 expression by supporting alternative splicing of the K-SAM isoform of FGFR-2. The inability of mutated p63alpha to support this splicing likely leads to the inhibition of epithelial differentiation and, in turn, accounts for the AEC phenotype.

Abnormalities, Multiple↗
PubMed1975

Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).

Partial trisomy 10q was observed in an eighteen year old girl with severe mental and physical retardation, microcephaly, a high forehead, microphthalmia, antimongoloid slants, low set ears and severely malformed extremities. A balanced translocation t(10q-;18q+), present in several family members, was identified by fluorescence and thermic denaturation techniques; the break points were 10q25 and 18q23. A comparison made with seven similar cases suggests a common, phenotypical appearance which may be of diagnostic value.

Abnormalities, Multiple↗