Smith-Magenis syndrome and growth hormone deficiency

Spadoni, Emanuela; Colapietro, Patrizia; Bozzola, Mauro; Marseglia, Gian Luigi; Repossi, Luciana; Danesino, Cesare; Larizza, Lidia; Maraschio, P

doi:10.1007/s00431-004-1460-7

Cited by 7 publications

(2 citation statements)

References 26 publications

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“…One suspects that there must be many more syndromes [5,11] . The Smith-Magenis syndrome (SMS; OMIM # 182290) [11] is notable for the presence of short stature, mental retardation, as well as brachycephaly and broad nose, as in our propositus [3,15,16] . However, the behavioural problems in SMS which include severe self-injurious behaviour and polyembolokoilamania (placing foreign objects into body orifi ces) that dominate the clinical picture in SMS, are not present in our patient.…”

Section: Discussionmentioning

confidence: 99%

A Syndrome with Coarse Face, Mental Retardation and Unusual Stereotyped Movements

Pavone

Trifiletti

Parano³

et al. 2009

Neuropediatrics

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We describe a mentally retarded 24-year-old man followed by our group since age 18 months who exhibited nearly continuous stereotypic movements while awake. These movements, which have persisted over many years, consist of synchronous lateral flexion at the neck and waist. Movements could be partially voluntarily suppressed and disappeared in sleep. The patient has drug-resistant seizures and a constellation of dysmorphic features, including coarse face, large nose, large thin lips, brachicephaly, marked hirsutism on the face, and limbs proportionally smaller than the trunk, which suggests that the unusual stereotypic movements described may be part of a syndrome. Routine and full metabolic serum and urine analyses, full ophthalmological examination, internal organs ultrasound examination, full skeletal survey, standard karyotype and array-CGH analysis yielded normal results.

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Section: Discussionmentioning

confidence: 99%

A Syndrome with Coarse Face, Mental Retardation and Unusual Stereotyped Movements

Pavone

Trifiletti

Parano³

et al. 2009

Neuropediatrics

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“…The total secretion of GH has been proved to be normal, although the peak values were lower than those of controls [ 30 ]. On the other hand, a GH deficit was identified three times [ 25 , 31 , 32 ] and replacement therapy might have proved to be effective for the final stature only once [ 32 ], requiring further studies to elucidate its real benefit. Microcephaly is not common and varies from 16% [ 25 ] to 37.5% [ 33 ].…”

Section: Clinical Featuresmentioning

confidence: 99%

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders

Rinaldi

Villa

Sironi

et al. 2022

Genes

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Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions (90%), encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by pathogenic variants in RAI1 itself (10%). RAI1 is a dosage-sensitive gene expressed in many tissues and acting as transcriptional regulator. The majority of individuals exhibit a mild-to-moderate range of intellectual disability. The behavioral phenotype includes significant sleep disturbance, stereotypes, maladaptive and self-injurious behaviors. In this review, we summarize current clinical knowledge and therapeutic approaches. We further discuss the common biological background shared with other conditions commonly retained in differential diagnosis.

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Cerebral Palsy due to Chromosomal Anomalies and Continuous Gene Syndromes

Menkes¹,

Flores‐Sarnat²

2006

Clinics in Perinatology

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Smith-Magenis syndrome and growth hormone deficiency

Abstract: we suggest that an investigation of both growth hormone secretion and function is carried out in patients with Smith-Magenis syndrome and 17p11.2 deletion.

Cited by 7 publications

References 26 publications

A Syndrome with Coarse Face, Mental Retardation and Unusual Stereotyped Movements

A Syndrome with Coarse Face, Mental Retardation and Unusual Stereotyped Movements

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders

Cerebral Palsy due to Chromosomal Anomalies and Continuous Gene Syndromes

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