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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-year-old boy with features suggestive of cri-du-chat syndrome had a complex karyotype: 45,XY,--22,5p--,t(5p:22q). Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, epicanthus, micrognathia, dermatoglyphics abnormalities, and partial syndactyly between 2nd and 3rd toes.
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PMID:Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome. 100 56

Two first cousins, the offspring of consanguineous marriages, had features suggestive of Marden-Walker syndrome. Phenotypic similarities and differences for Schwartz-Jampel syndrome have been discussed. Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly. Peculiar facies is due to blepharophimosis, congenital ptosis, hypoplastic mandible and low-set and malformed ears. Posterior median cleft of the palate as well as cardiac and renal anomalies were noted in the case reported by Marden and Walker. Our Case 2 had dextrocardia. The present report suggests autosomal recessive inheritance of this syndrome.
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PMID:Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. 122 20

We report on a 5-year-old boy with failure to thrive, mental retardation, a broad nose, hypertelorism, slight antimongoloid slant palpebral fissures, mild ptosis, microphthalmia, short and wide neck, apparently acyanotic tetralogy of Fallot, dislocation of the left hip, generalized linear and patchy hyperpigmentation, micropenis, and undescended testes. He had mosaicism of 46,XY/47,XY, + 14 in a ratio of 3:1. Comparisons are made with the other reports of trisomy 14 mosaicism and relationship to incontinentia pigmenti.
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PMID:Trisomy 14 mosaicism in a 5-year-old boy. 188 54

The authors report three cases of a new syndrome which characteristic anomalies are facial dysmorphism with anteverted nose, down slanting palpebral fissures, ptosis, severe microretrognatia, polydactyly. The authors insist on the particular severe genital anomalies, the failure to thrive and the constant lethal issue. The authors discuss the diagnosis of Smith-Lemli-Opitz syndrome and suggest the possibility of a new entity always confounded with others associations characterized by a polydactyly and a sexual reversion in male.
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PMID:[An unrecognized etiology of sexual ambiguity: Smith-Lemli-Opitz syndrome or a new entity?]. 361 97

A 1-month-old boy was admitted because of failure to thrive. He was floppy and had bilateral ptosis, diminished reflexes, and poor suck. He had aspiration pneumonia, developed seizures, and died at age 3 1/2 months. Laboratory data showed lactic acidosis, proteinuria, glycosuria and generalized aminoaciduria. He was an only child, and family history was negative. Muscle biopsy showed large clumps of granules positive with oxidative enzyme stains and increased lipid droplets. Ultrastructural studies showed large aggregates of mitochondria, many of which were greatly enlarged and contained disoriented or concentric whorls of cristae and paracrystalline inclusions. Cytochrome c oxidase was absent in fresh frozen sections by histochemical staining. By biochemical assay, cytochrome c oxidase (cytochrome aa3) was 6% of normal in muscle biopsy and undetectable in autopsy muscle; spectra and content of cytochromes showed lack of cytochrome aa3, decreased cytochrome b and normal cytochrome cc1. In kidney, cytochrome-c-oxidase activity was 38% of normal and spectra showed decreased cytochromes aa3 and b. The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.
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PMID:Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. 625 6

Congenital laryngeal stridor (CLS) and laryngomalacia are terms used to describe a common disorder characterized by onset, at or soon after birth, of a harsh respiratory sound mostly audible during inspiration. Typically, laryngoscopy reveals flaccid supraglottic structures which tend to prolapse medially toward the glottis during inspiration. Despite reports of this disorder dating back to the mid-19th century, specific etiology and pathogenesis remain nebulous. Analysis of findings in 30 infants indicate that there are often associated manifestations of delayed development in neuromuscular control. Associated findings include gastroesophageal reflux, obstructive and central apnea, hypotonia, failure to thrive, and pneumonitis. A retrospective review of relevant medical literature along with results of laryngeal dissections and analysis of clinical findings in the 30 cases leads to the conclusion that CLS may be a mild form of localized hypotonia rather than an isolated idiopathic type of anatomic abnormality.
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PMID:Congenital laryngeal stridor (laryngomalacia): etiologic factors and associated disorders. 649 35

A patient with partial deletion 3p is reported. Only one other patient has been previously reported in the literature. Features the two share include microcephaly, failure to thrive, ptosis, symophrys, a broad and flat nose, a prominent maxilla, an over developed chin, and an increased number of loops on the finger tips. These observations are compared in type and countertype with known observations of trisomy 3p and of 3q duplication/3p deletion.
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PMID:[Partial deletion of the short arm of chromosome 3. Report of a case (author's transl)]. 696 85

A girl aged 4 years and 10 months presented with failure to thrive, ptosis, ragged-red fibers and the common 4.9 kb mitochondrial DNA deletion. She had elevated serum lactic and pyruvic acids. The onset was at around 18 months. There were no signs of retinitis, and abnormal renal, liver or pancreatic functions. She later developed mild ophthalmoplegia at 6 years of age. Additional features of chronic progressive external ophthalmoplegia (CPEO) or Kearns-Sayre syndrome (KSS) are the conditions that should be watched and investigated in the long-term follow-up of this girl.
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PMID:Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers. 1048 76

X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to 3-beta-hydroxysteroid-delta8,delta7-isomerase deficiency caused by mutations in the emopamil binding protein (EBP) gene. A 2.5-year-old Caucasian male was followed from the age of 6 weeks and noted to have significant developmental delay, hypotonia, seizures, and patchy hypopigmentation. Multiple congenital anomalies included a unilateral cataract, esotropia, crossed renal ectopia, stenotic ear canals, and failure to thrive, requiring G-tube placement. Multiple minor anomalies and ptosis were noted. No skeletal asymmetry or chondrodysplasia punctata were noted on skeletal survey at 6 weeks and 13 months. An extensive genetic work-up including cholesterol (126-176 mg/dl) and 7-dehydrocholesterol was unrevealing. However, the levels of 8(9)-cholestenol and 8-dehydrocholesterol were mildly increased in plasma, which was confirmed in cultured fibroblasts. This prompted molecular analysis of the EBP gene, which revealed a novel hemizygous (nonmosaic) mutation in exon 2 (L18P). Two restriction digests were developed that confirmed this mutation in skin fibroblasts, blood, and buccal cells (all nonmosaic). We determined that the patient's mother (adopted) also has the L18P mutation enabling prenatal diagnosis of a normal male fetus. She has normal stature, no asymmetry, no cataracts at this time, and has a patch of hyperpigmentation on her chest best visualized on Woods lamp examination, characteristic of CDPX2. The mild maternal phenotype has been described previously. However, this nonmosaic missense mutation has resulted in a severe phenotype in her surviving son.
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PMID:Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. 1536 6

The F(o)F(1)-ATPase, a multisubunit protein complex of the inner mitochondrial membrane, produces most of the ATP in mammalian cells. Mitochondrial diseases as a result of a dysfunction of ATPase can be caused by mutations in mitochondrial DNA-encoded ATPase subunit a or rarely by an ATPase defect of nuclear origin. Here we present a detailed functional and immunochemical analysis of a new case of selective and generalized ATPase deficiency found in an Austrian patient. The defect manifested with developmental delay, muscle hypotonia, failure to thrive, ptosis, and varying lactic acidemia (up to 12 mmol/L) beginning from the neonatal period. A low-degree dilated cardiomyopathy of the left ventricle developed between the age of 1 and 2 y. A >90% decrease in oligomycin-sensitive ATPase activity and an 86% decrease in the content of the ATPase complex was found in muscle mitochondria. It was associated with a significant decrease of ADP-stimulated respiration of succinate (1.5-fold) and respiratory control with ADP (1.7-fold) in permeabilized muscle fibers, and with a slight decrease of the respiratory chain complex I and compensatory increase in the content of complexes III and IV. The same ATPase deficiency without an increase in respiratory chain complexes was found in fibroblasts, suggesting a generalized defect with tissue-specific manifestation. Absence of any mutations in mitochondrial ATP6 and ATP8 genes indicates a nuclear origin of the defect.
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PMID:Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. 1515 67


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