Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Dubowitz syndrome is a rare, autosomal recessive disorder including intrauterine growth retardation, craniofacial abnormalities, mental retardation and eczematous skin eruption. Ocular problems occur in about 20%: strabismus, blefarophimosis, ptosis, telecanthus and epicanthal folds being the most frequent ones. We present a three years old girl, diagnosed with Dubowitz syndrome, with sudden visual loss due to bilateral cataract.
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PMID:Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report. 1176 56

Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in loss of material from 3p25 to 3pter. We present a child with a clinical phenotype consistent with deletion 3p syndrome (ptosis, microcephaly, growth retardation, and developmental delay) and a subtle interstitial deletion in the distal portion of the short arm of chromosome 3, del(3)(p25.3p26.2). Fluorescence in situ hybridization (FISH) studies using 3p subtelomeric probes confirmed the terminal region of chromosome 3 was present. Sequence tagged sites (STS)-linked BAC clones mapping to chromosomal region 3p25-p26 were used to characterize the interstitial deletion by FISH. The results indicate the deletion is within a region of approximately 4.5 Mb between STS markers D3S3630 and D3S1304. This interstitial deletion lies within all previously reported terminal deletions in deletion 3p syndrome individuals, and represents the smallest reported deletion associated with deletion 3p syndrome. Characterization of the deletion may help identify genes important to growth and development that contribute to the deletion 3p syndrome phenotype when present in a hemizygous state.
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PMID:Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. 1197 62

The authors report a case of de novo duplication 1q32-qter present in a patient with dysmorphic syndrome and developmental delay. This article describes the eighth case of partial trisomy 1q32-qter "pure", without chromosomal abnormalities. In the literature, a dysmorphic "syndrome" is described for trisomy 1q32-qter: hypertelorism, low set and malformed ears, prominent forehead, long philtrum, antimongoloid slanting, foot and digital malformations, cardiovascular abnormalities, urogenital abnormalities, and mental retardation. The ocular defects described in previously reported cases include: cataract, strabismus, hypoplasia of the optic disk, microphthalmia, epicanthal folds, ptosis, persistent tunica vasculosa lentis, and hyaloid vessels, but this seems to be nonspecific of this chromosomal abnormality.
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PMID:[Ocular defects associated with a duplication of the distal part of the long arm of chromosome 1: a case report]. 1201 43

The influence of Phenytoin on the human embryo is knowing to produce the fetal hydantoin syndrome. Even this syndrome is knowing to produce microcephaly, mental retardation, eyelid ptosis etc it is not mentioned the influence of Phenytoin on the human metanephros. This is the reason of our study, made on human embryos. Their mothers received during pregnancy Phenytoin. In one studied embryo we have remarked a malformation in the metanephros. Even we can not make a strong correlation between the malformation and the Phenytoin we consider that pregnant women should not use Phenytoin during pregnancy.
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PMID:[Phenytoin influence on human metanephros]. 1209 25

Isolated mitral regurgitation without supravalvular aortic stenosis is rarely identified in Williams syndrome. We describe the case of a 24-year-old man with isolated mitral regurgitation in Williams syndrome. Severe regurgitation due to prolapse of the anterior leaflet was noted in an echocardiogram and color Doppler, and a left ventriculogram showed grade IV regurgitation. No pressure gradient between the left ventricle and the ascending aorta was found. Mitral regurgitation had been noted since his birth, and pediatricians suspected Williams syndrome because of postnatal growth deficiency, mental deficiency, unusual personality, and unusual facial features in his childhood. The diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by the fluorescent in situ hybridization technique after his admission to our department. The patient underwent mitral valve replacement, and microscopic examination of the excised valve revealed myxomatous degeneration.
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PMID:Mitral regurgitation without supravalvular aortic stenosis in Williams syndrome. 1238 35

Three affected sibs in a consanguineous family with short stature, mental retardation, downslanting palpebral fissures, ptosis and polydactyly are described. There was no hypogonadism or pigmentary retinopathy. They were thin in childhood and while two of the postpubertal sibs have a stocky build none is obese. We propose that this could be a previously unreported autosomal recessive syndrome.
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PMID:Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome? 1240 96

The relationship between phenotype and Xq duplications in females remains unclear. Some females are normal; some have short stature; and others have features such as microcephaly, developmental delay/mental retardation, body asymmetries, and gonadal dysgenesis. There are several hypotheses proposed in the literature to explain this variability. We describe a 7-year-old girl with dup(X)(q22.3q26). The pregnancy was complicated by intrauterine growth retardation, and she was distressed during labor. During her first year she fed poorly and failed to thrive. She has microcephaly, her height is at the 10th centile, and her hands and feet are strikingly small. She is hypotonic and delayed. Asymmetries of muscle power, and of leg and foot length have been noted. She has mild unilateral ptosis. She has some features of Turner syndrome, and multiple other minor anomalies such as flat labia. These are features common to other described females. This report describes our patient in detail and compares her phenotype to those of the other females with Xq duplications, displays our laboratory investigations, and discusses ideas regarding the pathogenesis of phenotype. The duplicated X is of paternal origin. It is inactivated in all cells; however, the distal duplicated portion appears to be active. We suggest that functional disomy of the duplicated X material, due to local escape from inactivation, may be responsible for the phenotype in the affected females.
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PMID:De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. 1247 55

Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and central nervous system (CNS). This report describes a child with facial dysmorphism, mental retardation, psychomotor delay, congenital alopecia of the scalp, eyebrows, and eyelashes, and extensive spiny follicular papules. A skin biopsy specimen showed the characteristic absence of sebaceous glands. We also reviewed the literature on this very rare entity. Additional findings observed in our patient, including hepatosplenomegaly, undescended testicles, and ptosis, have not been reported before.
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PMID:Ichthyosis follicularis: a case report and review of the literature. 1255 47

We report a case of 13-year-old girl with short stature, microcephalus, blepharophimosis, ptosis, bilateral microphthalmia (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation. Her mother had two spontaneous abortions. She was born as the second baby of dizygotic twins. The first baby died of diaphragm hernia and heart failure. Her body height, body weight and head circumference were below -3 SD. She did not have epicanthus inversus, hypoplastic teeth, heart anomalies, seizures, muscle weakness, and hearing loss. She was able to handle her wheelchair, but could neither understand nor speak meaningful words. When she looked at something in front of herself, she turned her face up and lifted the left eyelid with her own fingers. She had no somatic change of puberty. Laboratory and radiological examinations demonstrated a normal karyotype, normal bone age, findings of Chilaiditi syndrome, and absence of brain malformation on cranial CT. The serum levels of LH and FSH were high for age and those of estradiol and progesterone were low, suggesting immaturity of ovarian function. These findings suggested the ovarian functions might not get maturations. Hypogonadism has previously been reported in female cases of the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) type I, but not in those with the Ohdo blepharophimosis syndrome (OBS). Our case's condition differs from BPES because of the presence of mental retardation and the absence of epicanthus inversus. We also discuss the distinction from OBS, a disease entity of unknown etiology presenting with a variety of complications.
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PMID:[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome]. 1517 98

We report clinical, cytogenetic, and molecular cytogenetic studies on four patients with subtle or submicroscopic 7q36 deletions either of de novo origin or resulting from a cryptic parental translocation. Fluorescence in situ hybridization (FISH) studies indicated that in all four patients, the Sonic Hedgehog gene (SHH) and the homeobox gene HLXB9, among others, are comprised in the deletions. Besides mental retardation and short stature, all patients showed only minimal manifestations of the holoprosencephaly (HPE) spectrum and only one displayed symptoms of the Currarino syndrome. Patient 1 had a de novo 7q36.1-qter deletion and showed microcephaly, ptosis, sacral agenesis, tethered cord, but no structural brain anomaly. Patient 2 had a submicroscopic de novo 7q36 deletion detected by FISH, and showed facial and cerebral microsigns of the HPE spectrum. Patient 3 had a 7q36 deletion found by subtelomere FISH testing that was the unbalanced product of a subtle maternal 7q;10q translocation. She presented facial and ocular microsigns, but no structural abnormality of the brain. Patient 4 showed no specific syndromal pattern and was found to have a cryptic unbalanced de novo translocation of the terminal parts of chromosomes 7q and 9p by subtelomere FISH. Patients 2, 3, and 4 represent the first report of a de novo submicroscopic 7q36 deletion, the second report of a familial subtle translocation of 7q36, and the first report of an unbalanced de novo submicroscopic translocation of 7q36, respectively. Our results stress the importance of 7q36 deletion studies by FISH in patients with microsigns of the HPE spectrum.
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PMID:Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3. 1521 64


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