Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-year-old Japanese male whose clinical features included intrauterine and postnatal growth retardation, mild mental retardation, microcephaly and characteristic facial appearance including sloping forehead, blepharophimosis, ptosis of unilateral eyelid, broad nasal bridge, dysplastic auricles, and retrognathia, is presented. The clinical findings of this patient are strikingly similar to those of patients with the Dubowitz syndrome. However, all reported cases with the Dubowitz syndrome are Caucasians. This syndrome may be diagnosed even in sporadic cases of any ethnic groups based on the characteristic features.
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PMID:A Japanese patient with the Dubowitz syndrome. 362 42

A girl with an interstitial deletion of the long arm of chromosome 11 is described. The patient was mildly mentally retarded and showed some facial dysmorphic features, including hypertelorism, ptosis, and cleft palate.
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PMID:Interstitial deletion of the long arm of chromosome 11. 400 45

A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out malformations, tumors or multiple sclerosis. Her lymphocyte karyotype showed a variegated mosaicism with: 2 cells with 49, XX, +mar,+mar,+mar; 21 cells with 48, XX, +mar,+mar; 57 cells, with 47, XX,+mar; 20 cells with 46,XX; while parental karyotypes were normal. This syndrome therefore associates optic atrophy, mental retardation and microcephaly and short stature with chromosomal instability in the form of variegated mosaicism.
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PMID:Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation. 798 82

Noonan syndrome was first described over 20 years ago by Noonan and Ehmke. They defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism and unusual facies. The incidence of Noonan syndrome has been estimated to be between 1 in 1000 and 1 in 2500 live births. The primary biochemical defect in Noonan's syndrome is unknown. We analyzed 9 patients (5 males and 4 females) in an age range of 6 months to 10 years and 3 months with Noonan syndrome. Patients were diagnosed as having the syndrome if they had characteristic facies and a normal karyotype, plus one of the following signs: cardiac defects, short stature or undescended testes. All patients have ocular anomalies (epicanthal folds, ptosis of eyelids, hypertelorism, downslanting palpebral fissures and ocular proptosis). Congenital heart malformations are present in 8 patients and the more frequent cardiopath is pulmonary valve stenosis due to a dysplastic or thickened valve. Short stature is present in 6 patients and 3 of them are actually on treatment with rhGH. A moderate-mild mental retardation is present in 6 patients. Case n. 9 had a syringomyelia and tethered cord. These malformations are rarely reported in Noonan's syndrome.
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PMID:[Nosologic evaluation of Noonan syndrome and description of nine cases]. 830 30

Cytochrome c oxidase (CCO) deficiency is associated with various types of mitochondrial encephalomyopathy. The enzyme activities in different tissues and organs are varied. We report an 11-year-old girl with CCO deficiency, who presented with nystagmus, ptosis and optic atrophy. Her younger sister died of respiratory failure at 7 years of age and had the same initial clinical manifestations. Their parents were consanguineous. The girl had mild mental retardation and frequent premature ventricular contractions. Brain magnetic resonance imaging of the patient on admission revealed multiple lesions in both the gray and white matter. Except for arrhythmia and marked right axis deviation of the heart on electrocardiography, no other evidence of cardiac involvement was noted. Although a muscle biopsy was normal for both histochemical stains and electron microscopy, the enzyme assays in cultured skin fibroblasts revealed partial CCO deficiency, which may explain the clinical presentations.
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PMID:Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. 891 62

We report a boy who shows a severe microcephaly, with mild mental retardation and hypotonia, and a dysmorphic facies: (flat profile, arched eyebrows, mild ptosis, short nose with raised basis, large tip and anteverted nares, long, smooth philtrum, narrow mouth with down turned corners, very large, backward tilted ears, with a prominent lobule, retrognathism and very small and widely spaced, although normally shaped teeth. Vesicoureteral reflux was present. The mother showed similar aspect, large ears, and a grinning smile. This appear to represent an undescribed phenotype which share some resemblance to mild Cornelia de Lange and Kabuki syndromes.
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PMID:Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome. 898 31

A case with 47,XXY, del(11)(q23) karyotype-coexistence of Jacobsen and Klinefelter syndromes: A two-year-old dysmorphic male child was found to have 47,XXY,del(11)(q23) karyotype. Domination of the clinical features of Jacobsen syndrome was observed: mild mental retardation, trigonocephaly, ptosis, downward slanting palpebral fissures, low set ears, carp-shape mouth and micrognathia. Transient thrombocytopenia and leukopenia were also present. Over the following five years gynecomastia and eunuchoid body proportions became evident as clinical features of Klinefelter syndrome. This is the first description of the coexistence of both syndromes.
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PMID:A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes. 1104 35

Phacomatosis pigmentokeratotica is a rare but highly characteristic disease defined by the occurrence of an organoid naevus with sebaceous differentiation, a speckled-lentiginous naevus and other associated anomalies. It is probably caused by the twin-spot phenomenon. We report on a 23-year-old male electrician with 10 irregularly shaped, sharply demarcated, brownish-yellow papillomatous plaques following Blaschko's lines, as well as 6 large, sharply demarcated, round to oval, slightly greyish macules with pewit-egg-like dots, involving both buttocks, the right thigh, the right knee, the right pectoral region and the upper back. A moderate hyperhidrosis of the palms, soles and axillae was noted. All routine blood tests and laboratory findings, including chest X-ray, ECG, abdominal ultrasound, ocular and neural examination were unrevealing. Phacomatosis pigmentokeratotica may be associated with dysaesthesia, segmental hyperhidrosis, mild mental retardation, epileptic seizures, deafness, ptosis, strabismus or muscular weakness. In our patient, only slight hyperhidrosis was present, whereas all other associated anomalies could be excluded.
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PMID:Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. 1201 1

At least six different forms of congenital muscular dystrophy are associated with structural changes of the central nervous system, and three of these have been mapped: merosin-deficient congenital muscular dystrophy on chromosome 6q2, Fukuyama congenital muscular dystrophy on chromosome 9q31, and muscle eye brain disease on chromosome 1p32. Walker-Warburg syndrome, congenital muscular dystrophy with calf hypertrophy, pontocerebellar hypoplasia, and normal eyes, and congenital muscular dystrophy with severe mental retardation and cerebellar cysts are nosologically distinct and have been excluded from the known congenital muscular dystrophy loci with structural changes of the central nervous system. Here, we describe a novel congenital muscular dystrophy syndrome which is phenotypically distinct from the recognized forms of congenital muscular dystrophy with brain involvement. Two siblings, a boy and a girl, were born to consanguineous parents from Sicily. Both children were born with adducted thumbs and toe contractures. They were floppy from birth, walked late, showed profound generalized muscle weakness including facial muscles, elevated creatine kinase levels of 200-700U/l, and histological changes compatible with muscular dystrophy. In addition, both showed ptosis, external ophthalmoplegia, mild mental retardation, and mild cerebellar hypoplasia on MRI. Immunocytochemistry showed normal expression of muscle membrane proteins including laminin alpha 2, laminin beta 2, and alpha-dystroglycan. Linkage analysis excluded the candidate loci on chromosomes 6q2, 9q31, and 1q32. The gene locus for congenital muscular dystrophy 1B, MDC 1B, on chromosome 1q42 was also excluded. Adducted thumbs are a distinct clinical sign that has not been reported in congenital muscular dystrophy before and should facilitate recognition of further patients with this disorder.
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PMID:Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. 1220 29

We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects). Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping of the 6p deletions in these three families with subtelomeric deletions of chromosome 6p have defined a 1.3 Mb minimally deleted critical region. To determine if 6p deletions are common in 3C syndrome, we analyzed seven unrelated individuals with 3C syndrome for deletions of this region. Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified.
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PMID:Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 1570 24


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