Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cerebro-Oculo-Nasal syndrome; a new multiple congenital anomaly/mental retardation syndrome was first reported by Richieri-Costa and Guion-Almeida in 1993 (Am J Med Genet 47:702-706) in two patients. To the best of our knowledge four additional cases have been reported. The main features of the syndrome are anophthalmia/microphthalmia, abnormal nares, and central nervous system anomalies. In this report, an additional sporadic case of this syndrome is presented. A 6-year-old girl from a non-consanguineous couple with normal prenatal growth parameters and retarded postnatal growth had anophthalmia, uplifted right nares with skin tag, and slight clefting at the tip of the nose, upper lip and gingiva. She also had a high-arched narrow palate, slightly low set ears, hypertelorism, a CNS defect and mental retardation. Additional findings were hypoplastic teeth with dental malocclusion, muscular hypotonia and midline hyperpigmentation over the anterior neck and the abdomen.
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PMID:Cerebro-oculo-nasal syndrome: another case and review of the literature. 957 Dec 87

Derivative 22 [der(22)] syndrome is a rare disorder associated with multiple congenital anomalies including pre-auricular skin tags or pits, conotruncal heart defects, and profound mental retardation. Der(22)t(11;22) is one of the causes of supernumerary chromosome markers (mar) in humans. We present a boy with developmental delay and multiple anomalies consistent with the supernumerary der(22) syndrome. Cytogenetic analysis showed an abnormal chromosome complement of 47, XY, +mar in all 50 cells analyzed. The karyotype of his mother showed a reciprocal translocation over the distal bands 11q23 and 22q11, respectively, i.e., 46,XX,t( 11;22)(q23.3;q11.2), and that of his father was 46,XY. Thus, the nature of the supernumerary chromosome markers was of der(22)t(11 ;22)(q23.3;q11.2). The clinical features, including craniofacial dysmorphism, hypotonia, psychomotor retardation, heart defects, and urogenital anomalies, were the combined effects of partial trisomies for both distal 11q and pericentromeric 22q.
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PMID:Supernumerary chromosome marker Der(22)t(11;22) resulting from a maternal balanced translocation. 1265 9

Bilateral anotia or microtia is known to be associated with multiple order malformations. The authors report a young infant who presented with failure to thrive and recurrent respiratory tract infections. The patient had bilaterally absent pinnae; instead small skin tags were present. He also had asymmetric crying facies and clinical evidence of hypothyroidism in the form of hoarse voice, constipation and generalized hypotonia. Thyroid function tests confirmed the diagnosis of hypothyroidism.
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PMID:Bilateral anotia with congenital hypothyroidism. 1510 26

We report on a 6-year-old boy referred for cytogenetics study. A few non-specific features were observed in the newborn: hypotonia, failure to thrive, seizures, pre-auricular skin tags. Cat-like cry was not identified. No remarkable facial dysmorphism, gastrointestinal, respiratory or cardiac abnormalities were identified. At age 4 years, speech and motor skill delays were apparent. Karyotyping and FISH analysis revealed a de novo rearranged chromosome 5p, with subtelomeric deletion of 5p and a duplication of the cri-du-chat critical region. Array CGH using sub-megabase resolution tiling-set (SMRT) array followed by FISH analysis with labeled BACs showed a deletion of 5pter to 5p15.31 (0-6.9 Mb) and an inverted duplication of the greater part of 5p15.31 to the distal end of 5p14.3 (6.9-19.9 Mb). Although very rare, inverted duplications with terminal deletion (inv dup del) have been reported at different chromosomal ends. Our finding adds a second patient of inv dup del 5p to this growing list, and the potential causative mechanisms for this rearrangement are discussed. Review of the mapping information of cri-du-chat patients and the comparison with a previously reported patient suggested that the critical region for cat-like cry is located within a 0.6 Mb region.
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PMID:Inverted duplication with terminal deletion of 5p and no cat-like cry. 1826 47

The purpose of this study was to describe the anal lesions found in children during a pediatric gastroenterology consultation when the reason for the complaint was related to a digestive disease. This prospective descriptive study included 100 children under 15 years of age over a 13-month period, consulting due to digestive symptoms. The children were under 8 years old (90%) and 25% were under 3.1 years old. Constipation was the most frequent reason for consultation (69%). Fifty-one anal lesions were observed, of which 58.8% were anal fissures, 15.7% were skin tags and 5.8% were venous congestions related to straining. Anal fissures and skin tags were located at the median line, according to the clock-face method in supine position. No child had more than two anal lesions. No anal dilatation, sphincter hypotonia, anal scars, anal lacerations or bruises were found. The two most common anal lesions were anal fissures and skin tags. These anal lesions were mainly observed at the median line and were due to constipation. No cases of multiple anal lesions were found in terms of common digestive diseases.
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PMID:Anal lesions presenting in a cohort of child gastroenterological examinations. Implications for sexual traumatic injuries. 2588 45