RESUMO
A series of 117 cases of Pierre Robin Sequence are classified as isolated (48%), syndromic (35%), and with associated anomalies (17%); the latter group had a poor long-term prognosis. In isolated Pierre Robin Sequence, familial cases and a high incidence of twins were noted. Among syndromic Pierre Robin Sequence, 4 syndromes represent more than 50% of the diagnoses.
Assuntos
Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Pré-Escolar , Feminino , Aconselhamento Genético , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Linhagem , Síndrome de Pierre Robin/mortalidade , Prognóstico , Taxa de SobrevidaRESUMO
OBJECTIVE: The objective was to determine the circadian rhythm of melatonin in the Smith-Magenis syndrome (SMS), which causes behavioral problems and sleep disturbance. STUDY DESIGN: Questionnaires, sleep consultations, and sleep diaries were obtained in 20 children with SMS (9 girls, 11 boys aged 4 to 17 years). Actigraphy, electroencephalography, and the circadian variations of plasma melatonin, cortisol, and growth hormone were recorded in 8 patients. Early sleep onset, early sleep offset, and sleep attack indicated sleep disturbance. RESULTS: All children with SMS had a phase shift of their circadian rhythm of melatonin. Time at onset of melatonin secretion was 6 AM +/- 2 (control group: 9 P.M. +/- 2). Peak time was 12 PM +/- 1 (control group: 3:30 AM +/- 1:30), and melatonin offset was at 8 PM +/- 1 (control group: 6 AM +/- 1). Behavioral problems correlated with the inverted circadian rhythm of melatonin. CONCLUSION: Considering that clock genes mediate the generation of circadian rhythms, we suggest that haploinsufficiency for a circadian system gene mapping to chromosome 17p11.2 may cause the inversion of the circadian rhythm of melatonin in SMS.
Assuntos
Anormalidades Múltiplas/genética , Transtornos do Comportamento Infantil/genética , Cromossomos Humanos Par 17 , Ritmo Circadiano , Melatonina/metabolismo , Transtornos do Sono-Vigília/genética , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Deleção de Genes , Humanos , Masculino , Mutação , SíndromeRESUMO
OBJECTIVES: Conotruncal malformations (CTMs) are a major feature of 22q11 microdeletion (22qdel). The prevalence of 22qdel in fetuses harboring these defects is unknown. We assessed the prevalence of 22qdel in a population of fetuses with conotruncal cardiac defects. STUDY DESIGN: Consecutive fetuses (n = 261) with a CTM and a normal karyotype were included in the study. All fetuses were screened for 22qdel by means of fluorescent in situ hybridization. RESULTS: A 22qdel was found in 54 fetuses (20.7%). The proportion of 22qdel for each CTM was: tetralogy of Fallot (14/100), pulmonary atresia with ventricular septal defect (11/61), tetralogy of Fallot with absent pulmonary valves (6/16), interrupted aortic arch (10/22), truncus arteriosus (9/29), and complex transpositions of the great arteries (4/33). Additional vascular anomalies were present in 75%. Typical abnormal facial appearance at birth or at autopsy was observed in 80%, and thymus hypoplasia, in 76%. The pregnancy was terminated in 41 of 54 cases, including an intrauterine death in one case. The 22qdel was inherited in 7.7%. CONCLUSION: Prevalence of the 22qdel is high in fetuses with CTMs. The risk of mental retardation associated with the respective risk of cardiac surgery for each type of CTM may strongly influence prenatal counseling.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Cardiopatias Congênitas/genética , Aborto Terapêutico , Feminino , Aconselhamento Genético , Idade Gestacional , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/genética , Masculino , Gravidez , Estudos Prospectivos , Fatores de RiscoRESUMO
We report four cases of Noonan syndrome associated with chronic myelomonocytic leukemia in childhood. These children shared some hematologic features: thrombocytopenia, splenomegaly in the first months of life, occurrence of chronic myelomonocytic leukemia without abnormalities of the initial bone marrow karyotype, and, in three cases, improvement of the hematologic disease. A common pathophysiologic process in such patients is suggested.