RESUMO
We describe a 5 years and nine months old boy who presented with facial features, vertebral anomalies and dwarfism consistent with Robinow syndrome. Investigations revealed growth hormone (GH) deficiency to be the cause of his dwarfism. We reviewed data on four other patients with Robinow syndrome from the Genentech National Cooperative Growth Study (NCGS). Results of GH testing on three out of four were available and showed GH deficiency. Recombinant human GH therapy in our patient and the three patients from the NCGS resulted in a significant increase in the growth rate per year. The cause of dwarfism in children with Robinow syndrome has hitherto not been studied. We propose its association with GH deficiency and that treatment with rhGH can result in a significant increase in the growth rate of these children.
Assuntos
Nanismo/tratamento farmacológico , Nanismo/etiologia , Hormônio do Crescimento Humano/deficiência , Estatura , Desenvolvimento Ósseo , Pré-Escolar , Consanguinidade , Humanos , Masculino , Linhagem , Proteínas Recombinantes/uso terapêutico , SíndromeRESUMO
Patients with I-cell disease (mucolipidosis II) present with progressive morbidity failure to thrive, cardiomegaly, and recurrent respiratory tract infections leading to progressive deterioration and early death. We evaluated use of nasal continuous positive airway pressure (NCPAP) for 6 months in a 2-year-old girl with I-cell disease, obstructive sleep apnea (OSA), and craniofacial anomalies. We observed a marked decrease in hospitalizations for respiratory problems and a marked improvement in arterial blood gases with the use of NCPAP. In patients with I-cell disease, anatomical defects with superimposed upper respiratory tract infections cause worsening of OSA, and OSA contributes significantly to morbidity. In such patients NCPAP can lessen morbidity and can improve the quality of life.
Assuntos
Mucolipidoses/complicações , Respiração com Pressão Positiva , Doenças Respiratórias/terapia , Dióxido de Carbono/sangue , Pré-Escolar , Feminino , Hospitalização , Humanos , Oxigênio/sangue , Doenças Respiratórias/sangue , Doenças Respiratórias/complicações , Síndromes da Apneia do Sono/complicações , Síndromes da Apneia do Sono/terapiaRESUMO
The relationship between chromosomal abnormalities and Crohn's disease has not been established. Crohn's disease is associated with inflammation of the bowel, severe abdominal pain and chronic diarrhea. Its etiology is not known at present. A recessive gene with incomplete penetrance is thought to be a factor which does not follow simple mendelian inheritance. We report a case, where the euchromatin material of Y chromosome (p11.1 p11.2) has been directly inserted into the long arm of the X chromosome (q21.2), and is assumed to be the most likely cause of hypogonadotropic hypogonadism in this patients. It could also be that the function of the testis-determining factor (SRY) has been disrupted due to the insertion, causing loss of testicular development.
Assuntos
Aberrações Cromossômicas , Doença de Crohn/genética , Proteínas de Ligação a DNA/genética , Gonadotropinas/deficiência , Hipogonadismo/genética , Proteínas Nucleares , Fatores de Transcrição , Cromossomo X , Adolescente , Cromatina/genética , Eucromatina , Humanos , Cariotipagem , Masculino , Processos de Determinação Sexual , Proteína da Região Y Determinante do SexoRESUMO
We report on a boy with clinical and radiologic findings of osteoglophonic dysplasia. He had craniostenosis, "bizarre," expansile cystic lesions in the diaphyses, delayed tooth eruption, and progressive rib expansion typical of the syndrome. Initially delayed psychomotor development with later normal intelligence, early feeding and breathing difficulty, and speech delay are also characteristic of the disorder. Manifestations, not previously reported in osteoglophonic dysplasia, present in the propositus are spontaneous fractures resulting in pseudoarthroses through cystic and dysplastic foci in his proximal femoral shafts and right humerus, pretibial dimples, hypospadias, marked rib expansion, and absence of significant vertebral abnormality. These findings expand the spectrum of osteoglophonic dysplasia.
Assuntos
Doenças do Desenvolvimento Ósseo , Disostose Craniofacial , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/genética , Transtornos Cognitivos/etiologia , Disostose Craniofacial/complicações , Disostose Craniofacial/genética , Fraturas Espontâneas/etiologia , Humanos , Lactente , Recém-Nascido , Masculino , SíndromeRESUMO
PIP: Camptomelic syndrome is a severe malformation disorder affecting infant cartilage and bone formation. This syndrome is also characterized by sex reversal in a significant proportion of phenotypic females. In this case report, the authors describe a typical case of camptomelic syndrome in a black infant who had been exposed in utero to an oral contraceptive (OC). The infant was born after a full-term pregnancy. The mother had taken an OC containing 0.5-1.0 mg norethindrone and 0.035 mg ethinyl estradiol. Exposure had occurred for 6 months after conception. Parents were healthy and unrelated. The infant exhibited significant bone malformation in her legs, arms, feet, spine, and rib cage. Chromosome analysis yielded a normal 46,XY G-banded karyotype. The infant died at the age of 3 years, 6 months. Autopsy findings evidenced a female reproductive system. Microscopic examination of ovarian tissues revealed only immature sex cords; no oocytes were found. The authors briefly comment on camptomelic syndrome cases previously reported and implications of X-Y chromosome-gene effects associated with this syndrome. This may be the second reported case involving exposure to OCs early in pregnancy and sex reversal.^ieng
Assuntos
Anormalidades Múltiplas , Anticoncepcionais Orais Hormonais/efeitos adversos , Transtornos do Desenvolvimento Sexual/etiologia , Osteocondrodisplasias , Tíbia/anormalidades , Adulto , Feminino , Deformidades Congênitas do Pé , Humanos , Recém-Nascido , Masculino , Gravidez , Coluna Vertebral/anormalidades , SíndromeRESUMO
At the turn of the 20th century, studies of a family known in the literature as the Kallikaks were used to document the hereditary nature of mental retardation, poverty, and antisocial behavior. This family was said to authenticate eugenic theory, which states that heritable characteristics carried by individuals on "independent unit characters are unalterable determinants of behavior and performance. A review of the original Kallikak data, however, suggests that in utero exposure to alcohol rather than heredity contributed significantly to the transgenerational learning failure seen throughout the Kallikak pedigree. However, eugenic theory was so thoroughly accepted that the promotion and acceptance of "hereditary feeblemindedness" as the principal cause of the developmental problems in the affected offspring smothered the research efforts on in utero effects of alcohol until long after the eugenic concepts were abandoned later in the century.
Assuntos
Transtornos do Espectro Alcoólico Fetal/história , Feminino , Transtornos do Espectro Alcoólico Fetal/genética , História do Século XX , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/história , Masculino , Pediatria/história , Estados UnidosRESUMO
Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. Birth weight, postnatal physical growth, and head size were average. Family and gestational histories and laboratory evaluations were normal. The combination of features observed in the three boys appears to be distinct and to represent a new syndrome.
Assuntos
Anormalidades Múltiplas , Deficiência Intelectual , Hipotonia Muscular/congênito , Pré-Escolar , Constipação Intestinal , Transtornos do Crescimento/congênito , Humanos , Masculino , Músculos/patologia , Porto Rico , SíndromeRESUMO
We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.
Assuntos
Deformidades Congênitas do Pé/complicações , Cabelo/anormalidades , Deformidades Congênitas da Mão/complicações , Feminino , Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas da Mão/diagnóstico por imagem , Humanos , Recém-Nascido , Radiografia , SíndromeRESUMO
Triphalangeal thumb (TPT), a rare malformation of uncertain pathogenesis, may occur as an isolated defect, in association with other malformations of the hands, or as a feature of a syndrome or sequence. Isolated TPT occurs in two functional types: opposable and non-opposable. The latter appears to be inherited as a simple autosomal dominant trait, while the former is generally sporadic. TPT is associated with a number of specific malformations of the hand or foot, several of which have a well documented autosomal dominant pattern of inheritance. TPT is a feature of a number of specific syndromes. In this setting it may be associated with radial hypoplasia, bone marrow dysfunction, congenital heart disease, lung hypoplasia or agenesis, anorectal malformations, sensorineural hearing loss, onychodystrophy, mental retardation, and other disorders. TPT serves as a useful marker in such patients; in conjunction with the clinical and radiological findings, it can help to establish the correct diagnosis, leading to appropriate management and genetic counselling.
Assuntos
Anormalidades Múltiplas , Polegar/anormalidades , Surdez/complicações , Feminino , Dedos/anormalidades , Deformidades Congênitas do Pé/complicações , Cardiopatias Congênitas/complicações , Humanos , Masculino , Unhas Malformadas/complicações , Síndrome , Polegar/embriologiaRESUMO
Thirty children perinatally exposed to human immunodeficiency virus (HIV) infection and 30 healthy control subjects matched for age, sex, and race were evaluated for growth, head size, craniofacial dysmorphism, dermatoglyphics, and other physical features. Thirteen patients met the criteria for group IV (constitutional, neurologic, and secondary infectious diseases), 14 for group III (persistent generalized lymphadenopathy or hepatosplenomegaly), and three for group II (asymptomatic infection) of the classification of HIV infection established by the Centers for Disease Control, Atlanta. Postnatal growth failure and microcephaly, observed in a significant proportion of patients (46.7% and 30%, respectively), could be attributed to chronic illnesses and to progressive central nervous system lesions in HIV-infected patients. There were however, no significant differences between patients and controls with regard to the incidence of craniofacial features and dermatoglyphics, and the incidence of other anomalies was not different from that expected in the population. The patients born to drug-using mothers were not different from those born to non-drug-using mothers in relation to the studied criteria. We could not confirm the presence of characteristic craniofacial dysmorphism in children exposed to perinatal HIV infection.
Assuntos
Ossos Faciais/anormalidades , Soropositividade para HIV , Complicações Infecciosas na Gravidez , Efeitos Tardios da Exposição Pré-Natal , Crânio/anormalidades , Anormalidades Múltiplas/etiologia , Cefalometria , Criança , Pré-Escolar , Dermatoglifia , Doenças em Gêmeos , Feminino , Transtornos do Crescimento/fisiopatologia , Soropositividade para HIV/complicações , Humanos , Lactente , Masculino , GravidezRESUMO
We report on a previously apparently unreported syndrome of distichiasis with congenital heart defects and with mixed peripheral vascular anomalies in a mother and her four children. The mother had a ventricular septal defect; both daughters had surgery for patent ductus arteriosus. Sinus bradycardia alone (elder son), with stress induced asystole (younger son), and with wandering atrial pacemaker (both daughters) are documented electrocardiographically. Three of the five have edema, two have visible varicosities, three have symptoms consistent with chronic venous disease of the legs, and the older daughter has complaints consistent with arterial disease in the legs. Doppler flow studies demonstrated post-phlebitic syndrome in all but the younger daughter, and vasospastic disease in the mother, older daughter, and second son.
Assuntos
Pestanas/anormalidades , Genes Dominantes , Cardiopatias Congênitas/genética , Doenças Vasculares/genética , Adolescente , Adulto , Arritmias Cardíacas/genética , Permeabilidade do Canal Arterial/genética , Edema/genética , Eletrocardiografia , Feminino , Comunicação Interventricular/genética , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Síndrome , Varizes/genética , Insuficiência Venosa/genéticaRESUMO
A dilated cardiomyopathy was observed in two generations of a kindred, associated with articular disease and premature cataracts, a unique triad not previously described to our knowledge. The cardiomyopathy was characterized histologically by basophilic PAS-positive granulofilamentous deposits in the myocardium. The articular disease included hip joint degeneration, irregular intervertebral disks, and platyspondyly. The lenticular abnormalities may occur in young adults prior to other manifestations of the triad. Consanguinity was noted in the parents, and inheritance was most compatible with an autosomal recessive trait, with variable penetrance and expressivity.
Assuntos
Cardiomiopatia Dilatada/complicações , Catarata/complicações , Insuficiência Cardíaca/complicações , Artropatias/complicações , Adulto , Idoso , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Catarata/diagnóstico , Feminino , Articulação do Quadril , Humanos , Artropatias/diagnóstico , Masculino , Pessoa de Meia-Idade , Coluna VertebralRESUMO
5 newborn infants, whose mothers acknowledged steady use of marihuana prior to and during pregnancies, displayed symptoms of intrauterine growth retardation, neurological problems, and abnormal morphogenesis. These findings fit in with the experimental studies and surveys of pregnant human populations which have indicated that cannabis products have teratogenic potential, though rigorous proof must await further information.
Assuntos
Anormalidades Múltiplas/induzido quimicamente , Retardo do Crescimento Fetal/induzido quimicamente , Abuso de Maconha/complicações , Adolescente , Adulto , Peso ao Nascer , Feminino , Idade Gestacional , Humanos , Lactente , Masculino , GravidezRESUMO
A 10-year-old boy and his 9-year-old sister, with abnormalities of distal phalanges of hands and feet, onychodystrophy, deafness, mental retardation, seizure disorder, and abnormal dermatoglyphics, are described. Six similarly affected patients have been reported. These eight patients represent a new syndrome, which is inherited as an autosomal recessive trait.
Assuntos
Anormalidades Múltiplas/genética , Surdez/genética , Dedos/anormalidades , Deficiência Intelectual/genética , Unhas Malformadas , Convulsões/genética , Dedos do Pé/anormalidades , Criança , Feminino , Genes Recessivos , Humanos , Masculino , SíndromeRESUMO
A well documented case of I-cell disease is presented. Light- and electron-microscopic studies of muscle revealed marked accumulation of characteristic I-cell inclusions in satellite cells and only scattered autophagic vacuoles in muscle fibers. Correlation with previous tissue culture studies indicated an amelioration of structural abnormalities with differentiation from satellite cell to mature muscle fiber. Histochemically, the muscle demonstrated paucity of type I fibers without evidence of denervation thus suggesting a developmental disturbance in motor unit organization. Selective type I fiber dysfunction and reduced satellite cell regenerative capacity may be related factors in the neuromuscular disability of patients with I-cell disease.
Assuntos
Mucolipidoses/patologia , Músculos/patologia , Pré-Escolar , Feminino , Fibroblastos/ultraestrutura , Histocitoquímica , Humanos , Corpos de Inclusão/ultraestrutura , Microscopia Eletrônica , Mucolipidoses/metabolismo , Músculos/metabolismo , Músculos/ultraestruturaRESUMO
Five patients with the clinical diagnosis of fetal alcohol syndrome (FAS) died at the ages of 8 and 4 months and 17, 4 and 2 days. Neuropathological examination revealed microencephalic brains in all cases, without morphological evidence of maturation delay. One of them showed agenesis of the corpus callosum and hypoplasia of the cerebellar vermis. Five of them had only small dysgenetic changes, consisting mainly of glio or glioneuronal meningeal or parenchymal heterotopias. Our findings indicate that the brain is commonly but not affected in FAS. The influence of alcohol and its metabolites, as well as undernutrition, and use of other drugs by the mothers, should be taken into account as possible etiologic factors.