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13 resultados
[Distal 1q monosomy. 2 new cases and description of the syndrome].
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In two unrelated girls, each with severe mental deficiency and craniofacial dysmorphism, deletion of chromosome segment 1q4 had occurred de novo. These two observations together with seven others from the literature allow delineation of a syndrome, as follows. Growth retardation is marked at birth
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
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We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD) and Joubert syndrome. The index patient was the 5th child of healthy nonconsanguineous Turkish parents. At birth this female patient had large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral
Acrocallosal syndrome: a case report and literature survey.
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Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis of the corpus callosum, polysyndactyly,
Autosomal-recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose.
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We report on 2 sibs with severe microcephaly and unusual associated manifestations. The brother has borderline/normal intelligence, episodic seizures, clumsiness, and the more severe of facial manifestations; the sister has normal IQ and neither seizures nor behavior abnormalities. Small ears,
Toriello Carey syndrome: genetic, clinical, and oral considerations: a case report.
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Toriello Carey syndrome is a rare recessive autosomal disease whose clinical manifestations are more evident in males. Some authors report that the general characteristics of this disease are agenesis of the corpus callosum, mental disability, convulsions, atrial septal defect, pulmonary artery
[Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].
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Observation of a patient with r(14) mosaicism together along with 18 previously published observations define the syndrome as follows: mental deficiency, seizures, microcephaly (usually), and facial dysmorphism showing a narrow, elongated face, short palpebral fissures, a flat nasal bridge, and
Elective extracorporeal membrane oxygenation: an improved perioperative technique in the treatment of tracheal obstruction.
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The surgical management of children with tracheal stenosis and obstruction is complicated by the perioperative needs of pressure ventilation and indwelling endotracheal tubes. These factors predispose to surgical failure and anastomotic breakdown, restenosis. and pneumomediastinum. The use of
Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome.
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We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest
Distal arthrogryposis syndrome.
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A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive,
THOC6 Intellectual Disability Syndrome
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Clinical characteristics: THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, short and
A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders.
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We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral
Characterization of SPATA5-related encephalopathy in early childhood.
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Mutations in SPATA5 have recently been shown to result in a phenotype of microcephaly, intellectual disability, seizures, and hearing loss in childhood. Our aim in this report is to delineate the SPATA5 syndrome as a clinical entity, including the facial appearance, neurophysiological, and
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.
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Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with renal and central nervous system malformations, cleft palate, severe ocular anomalies, and cutis laxa, in addition to the previously
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