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At least 199 records · Page 11Linked to original sources
PubMed1989

Growth hormone treatment in children with sporadic primary microcephaly.

Four children with sporadic primary microcephaly associated with short stature, delayed bone age, and low growth velocity are described. All of the children showed a normal growth hormone response to standard pharmacological tests but one of the patients had a reduced spontaneous growth hormone nocturnal secretion. Regardless of the results of their somatotropic function evaluation, the patients were treated with exogenous growth hormone and all of them showed an increase in growth rate.

Body Height↗
PubMed1993

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.

Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.

Adolescent↗
PubMed1996

X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome.

We describe a male and his sister's son with microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, severe mental deficiency, progressive spasticity and growth retardation. Both affected males have brachycephaly, upslanting palpebral fissures, epicanthal folds, highly arched palate, small mouth, and retrognathia. Two maternal cousins of the propositus's mother may also have been affected. Chromosomal and metabolic findings in the propositus were normal. To our knowledge, this disorder has not been reported before as an X-linked syndrome.

Cataract↗
PubMed1996

Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.

Angelman syndrome (AS) is a relatively frequent disorder of psychomotor development caused by loss of function of a gene from chromosome 15q11-q13, a region subject to genomic imprinting. The AS gene(s) is exclusively expressed from the maternal chromosome. Several kinds of mutations have been found to cause AS. More than half of the cases exhibit a deletion of the maternal 15q11-q13 region. Recently, we and others described a new mutation type, the imprinting mutation, characterised by normal, biparental inheritance but aberrant methylation patterns of the entire chromosomal region. In AS, a paternal imprint is found on the maternal chromosome probably leading to functional inactivation of the AS gene(s). We have now compared the phenotype of 9 AS patients with imprinting mutation to that of nine age-matched ones with a maternally derived deletion. Both groups were evaluated for 19 common AS symptoms. All patients, independently of their molecular findings, showed classical AS symptoms such s mental retardation, delayed motor development, and absent speech. In contrast, for two signs, hypopigmentation and microcephaly, a different distribution among both groups was observed. Only one of nine AS patients with an imprinting mutation, but seven of nine in the deletion control group showed either symptom. Our results suggest that imprinting mutations, in contrast to deletions, cause only incomplete loss of gene function or that maternally derived deletions affect also genes not subject to genomic imprinting. We conclude that AS is caused by loss of function of a major gene that is imprinted but that there are also other genes that contribute to the phenotype when in hemizygous condition.

Albinism, Oculocutaneous↗
PubMed1996

Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome?

We report on 3 sibs (2 boys and a girl) with a previously apparently unrecognized combination of anonychia congenita and microcephaly with normal intelligence. The shape of the head is normal. Other anomalies include clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children. These children and their first-cousin Iranian parents have widely spaced teeth. The children's first cousin also has total anonychia congenita and apparently small head. We review anonychia congenita, and conclude that the presently reported family with a "new autosomal-recessive disorder" provides further evidence of the heterogeneity of this condition.

Abnormalities, Multiple↗
PubMed1997

Microcephaly, muscular build, rhizomelia, and cataracts: description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology.

We report on a 7-year-old boy born of consanguineous parents with severe microcephaly (-5 SD) but borderline intelligence, juvenile cataract, muscular build, rhizomelic shortness of limbs predominantly of femora, advanced bone age, and micropenis. This combination of signs appears unique and may represent an undescribed, possibly autosomal recessive MCA syndrome. The use of LDDB and POSSUM in the workup of such "new syndromes" is reviewed. Three search strategies are discussed: single rare sign browsing, best combinatory fit using an array of key words, and combined rare signs scan. Pitfalls in the use of such databases and the some problems raised by inconsistent/ incomplete encoding in those two popular, highly useful syndromology retrieval systems are discussed.

Cataract↗
PubMed1997

Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies.

We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, shortness of the middle phalanges of the second and fifth fingers, small feet, a gap between the first and second toes, and mild syndactyly of the toes or fingers. A characteristic radiologic finding in our family is thinning of the proximal end of the first metacarpal and shortening of that metacarpal. The severity of these findings was asymmetric in our patients. This syndrome is similar to patients described by Brunner and Winter [1991: J Med Genet 28: 389-394], Feingold [1975: Synd Ident 3:16-17, 1978: Hosp Prac 13:44-49], and König et al. [1990: Dysmorphol Clin Genet 4:83-86].

Child, Preschool↗
PubMed1998

Autosomal recessive microcephaly with neonatal myoclonic seizures: clinical and MRI findings.

We describe an infant who was born to a consanguineous couple of Palestinian origin. The patient had severe microcephaly, myoclonic seizures, hypsarrythmia, spasticity, hypertonicity, and profound mental retardation. A similar case was reported in another unrelated Palestinian family, suggesting that this condition may be endemic. The condition resembles early onset myoclonic seizures and spasticity described by Tolmie et al.: Am J Med Genet 27:583-594 [1987]. To the best of our knowledge, only four pairs of sibs have been described with this syndrome; however, to date no magnetic resonance imaging (MRI) findings were reported for this condition. We present the clinical and radiological findings in the patients, including the first report of MRI findings.

Consanguinity↗
PubMed1999

Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.

We report on 2 unrelated Brazilian patients, born to non-consanguineous parents, both with multiple anomalies including growth and mental retardation, microcephaly, telecanthus, cleft palate, preauricular skin tags/pit, camptodactyly, and foot anomalies. To our knowledge, this is a previously undescribed formal genesis syndrome. Clinical and genetic aspects are discussed.

Abnormalities, Multiple↗
PubMed2000

Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies.

We report on two brothers with mental deficiency, short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections. The younger brother has celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother has hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy. Striking resemblance exists between our patients and those previously reported by Schinzel ¿1980: Helv Paediatr Acta 35:243-251 and van Gelderen ¿1982: Am J Med Genet 13:383-387. The fact that boys are born to young and healthy nonconsanguineous parents and there are no other affected relatives suggests autosomal or X-linked recessive inheritance or parental germinal mosaicism for a dominant mutation.

Abnormalities, Multiple↗
PubMed2001

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.

We describe the cases of two brothers with microcephaly, primary cutis verticis gyrata of the scalp, prominent supraorbital ridges, large nose, hypertelorism, exotropia, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, kyphoscoliosis, and mental retardation. A review of the literature focusing on the major clinical findings suggests that our cases may represent a hitherto unreported new syndrome.

Abnormalities, Multiple↗
PubMed2001

Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?

We report on two sisters in a family with a hitherto undescribed MCA/MR condition characterized by growth retardation, severe microcephaly, a peculiar facies, congenital contractures of the interphalangeal and patellar joints, atopic dermatitis, and growth and developmental delay. The disorder in the family we describe is similar to but clearly distinguished from tricho-rhino-phalangeal syndromes or Bavinck syndrome. We propose that the condition in the sisters represents a new autosomal recessive MCA/MR syndrome.

Abnormalities, Multiple↗
PubMed2000

Growth retardation and microcephaly induced in mice by placental infection with murine cytomegalovirus.

BACKGROUND: The placenta is regarded as a site of congenital cytomegalovirus (CMV) infection. The placental infection of fetuses with murine CMV (MCMV) was investigated in a mouse model. METHODS: The placentas and fetuses were examined using the polymerase chain reaction (PCR) and Southern blotting for viral DNA and immunostaining for viral antigen. Since the transplacental infection rarely occurs, the placentas were directly injected with MCMV at day 12.5 of gestation; the embryos were then allowed to develop until day 18.5 of gestation. RESULTS: Formation of infected foci at day 18. 5 of gestation was found in more than 60% of the injected placentas. Infection of about 50% of the embryos occurred from the infected placentas. The frequency of infection in the brain was 27%, which was the same as that in the liver and higher than that in the lungs. In the brains, infected cells were often observed in the ventricular zone of the cerebrum and sometimes in the cortical plate and the hippocampus. Developmental retardation with microcephaly was observed in about 25% of offspring exposed to infection in utero. CONCLUSIONS: These results suggest that formation of infected foci in the placenta is important for embryonic congenital infection, and that the cerebral ventricular zone is one of the most susceptible sites for CMV infection in the embryonic stage.

Animals↗
PubMed1992

Familial microcephaly with normal intelligence in a patient with acute lymphoblastic leukemia.

The authors describe a family with two children with microcephaly and normal intelligence, in which acute lymphoblastic leukemia developed in one of the siblings. An autosomal recessive pattern of inheritance is suggested by the pedigree. This is consistent with the literature, which the authors reviewed. All of the patients have similar phenotypic features, with some demonstrating chromosomal instability. It is important to recognize this syndrome because of the increased risk of lymphoreticular malignancy.

Child↗