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At least 991 records · Page 55Linked to original sources

PubMed1993

Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity.

We report on 3 Brazilian children with short stature, microcephaly, cleft palate, lateral synechiae, and mild mental retardation. One patient was an isolated case and the other had an equally affected brother. Genetic aspects and phenotypic manifestations are compared with those of previous reports with oral synechiae. Recurrence in sibs suggests autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMed1994

Delineation of the da-Silva syndrome.

We present a 6-month-old boy with agenesis of the corpus callosum, hypertonicity, severe growth and psychomotor retardation, microcephaly, large prominent ears, and delayed bone age. Similarity of his manifestations to these in 3 sibs described by da-Silva in 1988 suggests initial delineation of the da-Silva syndrome.

Abnormalities, Multiple↗

PubMed1994

Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?

We report on 2 related children, a boy and a girl, from a large Turkish clan. Their parents are both first cousins and have several common ancestors. Both children have tyrosinase-positive oculocutaneous albinism, recurrent bacterial infections, granulocytopenia, intermittent thrombopenia, and microcephaly, a protruding midface, rough and projecting hair, and mild mental retardation. Chromosomes are normal. Metabolic disorders were excluded. None of 14 well-known types of albinism, including Hermansky-Pudlak syndrome and Chediak-Higashi syndrome, nor any other genetic syndrome, characterizes our patients sufficiently. Thus, this combination of symptoms is considered a new autosomal recessive syndrome.

Abnormalities, Multiple↗

PubMed1994

Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome.

We found an abnormal 47,XX,+mar karyotype in a patient with developmental delay, hypotonia, microcephaly, failure to thrive, and cognitive delay. When metaphases were hybridized with Prader-Willi and Angelman loci-specific probes by the FISH technique, two sites were noted at opposite positions on the marker chromosome. The alphoid satellite DNA probe documented the isodicentric nature while retention of the p arms on both sides of the marker chromosome was demonstrated by beta satellite probe. The patient does not exhibit manifestations of either syndrome despite the presence of these loci in tetrasomic dose. The present investigation suggests that other marker chromosomes be reevaluated, as their clinical manifestations are quite variable.

Abnormalities, Multiple↗

PubMed1995

Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.

We describe a boy with low birth weight, congenital microcephaly, multiple minor facial anomalies, cleft palate, soft tissue syndactyly of fingers and toes, and moderate to severe mental retardation. Literature review suggested 6 possible diagnoses, including Scott craniodigital syndrome, Chitayat syndrome, Filippi syndrome, Zerres syndrome, Kelly syndrome, and Woods syndrome. Each has as part of the phenotype craniofacial anomalies and soft tissue syndactyly of fingers and toes; and superficially, distinction among the 6 may be difficult. However, based on the phenotype analysis we performed, we conclude that our patient has Filippi syndrome, and thus is the first reported case from the United States.

Abnormalities, Multiple↗

PubMed1995

Alopecia/mental retardation syndrome.

We report on an African-American patient with alopecia universalis, microcephaly, hypogonadism, and mental and growth retardation, and compare his phenotype to others with recessive alopecia/mental retardation syndromes in the literature. Our patient represents the first case reported from nonconsanguineous African-American parents.

Alopecia↗

PubMed2001

Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies.

We report on two sisters, one 46,XX with normal female phenotype, the other 46,XY with ambiguous external genitalia and agonadism. Both have a low birth weight and microcephalic malformation syndrome leading to early death. The 46,XX patient also had a diaphragmatic defect. The XY sister, in addition to absence of gonads and Mùllerian and Wolffian derivatives, had severe hypoplasia of the pulmonary artery and its branches, multicystic kidneys, and pachygyria. This combination of malformations, in part, fits in the autosomal recessive condition described by Kennerknecht et al. [1993] in a 46,XX and 46,XY pair of sibs with agonadism. The craniofacial appearance of our patients is similar to that observed in the 46,XY sister with agonadism reported by Kennerknecht et al. [1995]. On the other hand, intrauterine growth retardation, microcephaly, and pachygyria are not part of the phenotype of the Kennerknecht "syndrome" and agonadism was not present in our 46,XX patient. We suggest two hypotheses to explain the abnormal phenotype in our cases. The first is that they might represent the third sibship affected by the Kennerknecht syndrome with additional anomalies. Alternatively, our two sibs might have a Seckel or a Seckel-like syndrome. The 46,XY patient would then be the first case of Seckel syndrome with sex reversal and agonadism.

Family Health↗

PubMed2001

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation. The application of molecular probes from the TWIST gene region (7p15.3-p21.1) and probes from the pseudoautosomal region (PAR) demonstrated that the 7p15.3-pter fragment was translocated onto Yp with the breakpoint within approximately 20 kb from the Yp telomere. We discuss the possible role of the TWIST gene in abnormal skull development and suggest that trisomy 7p cases with delayed closure of fontanels can be a result of TWIST gene dosage effect.

Abnormalities, Multiple↗

PubMed2003

Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation.

We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation. Both cousins have consanguineous parents. Differential diagnoses are discussed and the possibility that we might be reporting on a new syndrome is raised.

Abnormalities, Multiple↗

PubMed2003

Documentation of anomalies not previously described in Fryns syndrome.

We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.

Abnormalities, Multiple↗

PubMed2003

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

Mutations or deletions involving ZFHX1B (previously SIP1) have recently been found to cause one form of syndromic Hirschsprung disease (HSCR), associated with microcephaly, mental retardation, and distinctive facial features. Patients with the characteristic facial phenotype and severe mental retardation, but without HSCR, have now also been shown to have mutations in this gene. Mutations of ZFHX1B are frequently associated with other congenital anomalies, including congenital heart disease, hypospadias, renal tract anomalies, and agenesis of the corpus callosum (ACC). We present the clinical data and mutation analysis results from a series of 23 patients with this clinical syndrome, of whom 21 have proven ZFHX1B mutations or deletions (15 previously unpublished). Two patients with the typical features (one with and one without HSCR) did not have detectable abnormalities of ZFHX1B. We emphasize that this syndrome can be recognized by the facial phenotype in the absence of either HSCR or other congenital anomalies, and needs to be considered in the differential diagnosis of dysmorphism with severe mental retardation +/- epilepsy.

Abnormalities, Multiple↗

PubMed2003

Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings.

Two sisters with primary hypergonadotropic hypogonadism associated with microcephaly, flat occiput, partial alopecia, absent or streak ovaries, and Müllerian hypoplasia are reported. Their parents are first cousins. Despite some clinical differences, their features were very close to a family described with such an association by Al-Awadi et al. [1985: Am J Med Genet 22:619-622] in Kuwait.

Adolescent↗

PubMed2003

Morphology of the 45,X embryo: an embryoscopic study.

The morphology of monosomy X in embryos was documented by means of transcervical embryoscopy prior to evacuation in 24 cases of missed abortion. The embryos ranged in size from 13 mm to 26 mm CRL and were all developed beyond the sixth week of development. The embryonic phenotype varied from nearly normal to obviously abnormal with a combination of localized external developmental defects consisting of microcephaly, facial dysplasia, and retarded limb development. A single case of encephalocele was observed. The factors responsible for the wide range of developmental defects observed in monosomy X embryos are currently unknown. Transcervical embryoscopy can serve as a central component for further genetic studies elucidating these mechanisms which are needed for reaching a further understanding of the developmental effects of specific aneuploidy in human morphogenesis.

Chromosomes, Human, X↗

PubMed2003

Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature.

We report on a 4-year-old boy with developmental delay and microcephaly with an additional small marker chromosome derived from chromosome 1 and detected in 14% of T-lymphocytes by conventional cytogenetics and in 9% of buccal smear cells by interphase FISH. Using molecular cytogenetic techniques, the marker chromosome was characterized as an extra ring chromosome consisting of euchromatic material from the proximal short arm of chromosome 1. We compare the cytogenetic data and the phenotype of our patient to those previously described cases with marker chromosome 1 mosaicism. We conclude that in addition to the straightforward molecular cytogenetic characterization of the euchromatic content of the ring chromosome, the investigation of a second cell system gives additional information about the tissue specific distribution of the supernumerary marker chromosome (SMC) and provides more reliable data for further karyotype/phenotype correlations and the prediction of the phenotypic outcome in prenatal cases.

Child, Preschool↗

PubMed2003

Feingold syndrome: clinical review and genetic mapping.

Feingold syndrome is characterized by autosomal dominant inheritance of microcephaly and limb malformations, notably hypoplastic thumbs, and clinodactyly of second and fifth fingers. Syndactyly frequently involves the second and third, as well as the fourth and fifth toes. Approximately one in three Feingold syndrome patients have esophageal or duodenal atresia or both. Anal atresia has been reported in a single case. At least 79 patients in 25 families have been reported. The syndrome has autosomal dominant inheritance with full penetrance, and variable expressivity. Vertebral anomalies, cardiac malformations, and deafness have been noted in a minority of patients. Here, we report a patient with hydronephrosis of one kidney and cystic dysplasia of the other, necessitating nephrectomy. The overall pattern of malformations in Feingold syndrome shows considerable overlap with the VATER/VACTERL association. The gene for Feingold syndrome maps to 2p23-p24, but remains to be identified. Comparison of the pattern of anomalies that occurs in the Feingold syndrome in humans and malformations that are present in mice with mutations of genes in the sonic hedgehog signaling pathway suggest, that the elusive Feingold syndrome gene may involve this signaling pathway as well.

Chromosome Mapping↗

PubMed2004

9q34.3 deletion syndrome in three unrelated children.

We described three unrelated children with cryptic 9q34.3 rearrangements and similar clinical manifestations: two with 9q34.3 terminal deletions and the other with an unbalanced translocation involving 9q34.3-qter monosomy and 6p25-pter trisomy. Common features among the three we studied and the other six patients with 9q34.3 deletions in the literature include microcephaly, mental retardation (MR), hypotonic, and epileptic seizures. Their facial characteristics included flat face, arched eyebrows, synophrys, hypertelorism, short nose, anteverted nostrils, carp mouth, protruding tongue, micrognathia, and pointed chin. Other frequent abnormalities were cardiac abnormalities, cryptorchidism or hypospadias, and abnormal toes. These findings are characteristic enough to be a clinically recognizable syndrome.

Abnormalities, Multiple↗

PubMed2004

A syndrome with multiple malformations, mental retardation, and ACTH deficiency.

We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age. Family history was negative. Adrenal insufficiency is an uncommon feature in multiple malformation syndromes and may thus serve as a diagnostic handle for recognizing other possible patients with a similar syndrome.

Abnormalities, Multiple↗

PubMed2004

Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome.

We report two related Thai children having a new syndrome of microcephalic osteodysplastic primordial dwarfism (MOPD). The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, and abnormal pelvis. The findings that distinguish them as having newly recognized syndrome consist of severe microdontia, malformed teeth, single-rooted or rootless teeth, severely hypoplastic alveolar bone, café au lait spots, acanthosis nigricans, and areas of hypo- and hyperpigmented skin. The reported patients appear to have the same condition as the family reported by Kantaputra [2002: Am J Med Genet 111:420-428]. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

Abnormalities, Multiple↗