RESUMO
Deletions of chromosome 22q11.2 are recognized as the main cause of a number of clinical phenotypes, including velocardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS). Velocardiofacial syndrome is a relatively common developmental disorder that is characterized by craniofacial anomalies and conotruncal heart defects. Most 22q11.2 deletions occur sporadically, although the deletion may be transmitted in some cases. The present performed a molecular analysis in one family including a patient with clinical diagnosis of VCFS and his sister with a suggestive phenotype. Six polymorphic 22q11.2 markers (i.e. D22S420, D22S264, D22S941, D22S306, D22S425 and D22S257) were used for genotype analysis of the DNA from the patients and unaffected relatives. The results revealed a 22q11.2 deletion in the patient and his sister from one of six markers (i.e. D22S941). Genotype analysis demonstrated that the deletion in this sib was of maternal origin. The results suggest that the mother probably has gonadal mosaicism. The other relatives present normal DNA profiles for all markers. These results have implications for genetic counseling because of a risk of transmission by germ cells carrying the deletion, even when parents present with a normal DNA profile in their blood cells.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Anormalidades Craniofaciais/genética , Cardiopatias Congênitas/genética , Feminino , Genótipo , Células Germinativas , Humanos , Recém-Nascido , Masculino , MosaicismoRESUMO
We report a Brazilian female patient with a thin and long face, blepharophimosis, minor auricular anomalies, camptodactyly and thoracic and spinal anomalies. The constellation of clinical signs present in this patient is consistent with the diagnosis of Guadalajara camptodactyly syndrome type I. Clinical and genetic aspects concerning this condition are discussed.
Assuntos
Anormalidades Craniofaciais , Anormalidades Múltiplas/genética , Criança , Anormalidades Craniofaciais/genética , Fácies , Feminino , Retardo do Crescimento Fetal/genética , Dedos/anormalidades , Genes Recessivos , Humanos , SíndromeRESUMO
We report a Brazilian boy, born to normal and nonconsanguineous parents showing, among other signs, brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. To our knowledge this additional patient defines a particular clinical condition previously reported [Guion-Almeida M.L. Richieri-Costa A. (1999) Clinical Dysmorphol 8;1-4; Masuno M. et al. (2000) Clin Dysmorphol 9:59-60].
Assuntos
Anormalidades Múltiplas/diagnóstico , Coloboma/diagnóstico , Orelha/anormalidades , Pálpebras/anormalidades , Deficiência Intelectual/diagnóstico , Macrostomia/diagnóstico , Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso , Criança , Coloboma/genética , Diagnóstico Diferencial , Saúde da Família , Humanos , Deficiência Intelectual/genética , Macrostomia/genética , Masculino , Nariz/anormalidades , FenótipoRESUMO
Cerebro-oculo-nasal syndrome is a rare multiple congenital anomaly syndrome with structural anomalies of the central nervous system, anophthalmia, and abnormal nares. In this report two additional cases are presented, one of them without central nervous system and/or ocular anomalies.
Assuntos
Anormalidades Múltiplas/patologia , Encéfalo/anormalidades , Anormalidades do Olho/patologia , Nariz/anormalidades , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Masculino , Síndrome , Tomografia Computadorizada por Raios XRESUMO
We report on a male patient with a constellation of malformations, including cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect (CHD), and growth retardation. A similar association has been previously reported twice [Richieri-Costa and Orquizas (1987) Rev Brasil Genet X:787-792; Giannotti et al. (1995) J Med Genet 32:72-74], and autosomal recessive inheritance was proposed.
Assuntos
Anormalidades Múltiplas/patologia , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Fenda Labial/patologia , Fissura Palatina/patologia , Deficiências do Desenvolvimento/patologia , Orelha/anormalidades , Face/anormalidades , Cardiopatias Congênitas/patologia , Humanos , Recém-Nascido , Masculino , Sindactilia/patologia , Síndrome , Tomografia Computadorizada por Raios XRESUMO
We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, structural anomalies of the external ears, and atypical clefting. This combination of anomalies is unique and, to our knowledge, is a previously undescribed syndrome of unknown etiology, although one of the patients was born to a consanguineous couple, suggesting the possibility of autosomal recessive inheritance. Clinical, genetic, and differential diagnosis aspects are discussed.
Assuntos
Anormalidades Múltiplas , Anoftalmia , Região Branquial/anormalidades , Sistema Nervoso Central/anormalidades , Fenda Labial , Deficiência Intelectual , Nariz/anormalidades , Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso , Anoftalmia/genética , Brasil , Fenda Labial/genética , Consanguinidade , Nanismo/genética , Encefalocele/genética , Feminino , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , Masculino , Fenótipo , SíndromeRESUMO
We report on 2 unrelated Brazilian patients, born to non-consanguineous parents, both with multiple anomalies including growth and mental retardation, microcephaly, telecanthus, cleft palate, preauricular skin tags/pit, camptodactyly, and foot anomalies. To our knowledge, this is a previously undescribed formal genesis syndrome. Clinical and genetic aspects are discussed.
Assuntos
Anormalidades Múltiplas/patologia , Anormalidades Múltiplas/genética , Adulto , Brasil , Pré-Escolar , Fissura Palatina/patologia , Orelha Externa/anormalidades , Feminino , Articulações dos Dedos/anormalidades , Seguimentos , Deformidades Congênitas do Pé/patologia , Transtornos do Crescimento/congênito , Humanos , Lactente , Deficiência Intelectual/patologia , Masculino , Microcefalia/patologia , Pessoa de Meia-Idade , SíndromeRESUMO
We report on a Brazilian girl with Kabuki syndrome (KS) and lower lip pits and anorectal anomalies. To our knowledge, four patients with KS were described as having anorectal anomalies [Matsumura et al., 1992: J Ped Surg 27:1600-1602]. Lower lip pits were observed only in a KS patient described by Franceschini et al. [1993: Am J Med Genet 47:423-425].
Assuntos
Anormalidades Múltiplas/genética , Canal Anal/anormalidades , Lábio/anormalidades , Reto/anormalidades , Criança , Fácies , Feminino , Transtornos do Crescimento/genética , Humanos , Deficiência Intelectual/genética , Microcefalia/genética , SíndromeRESUMO
We report on a patient born to normal and nonconsanguineous parents and presenting with strikingly malformed ears, abnormalities of the condyle of the mandible, micrognathia, small mouth, and cleft uvula. The similarity of our patient with those reported previously by Jampol et al. [1998: Am. J. Med. Genet. 75:449-452] led us to suggest that they have the same condition.
Assuntos
Orelha Externa/anormalidades , Côndilo Mandibular/anormalidades , Pré-Escolar , Seguimentos , Humanos , Lactente , Recém-Nascido , Microstomia/patologia , Síndrome , Articulação Temporomandibular/anormalidadesRESUMO
We report a Brazilian girl, born to normal and non-consanguineous parents and presenting, among other signs, brachyacrocephaly, a wide forehead, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad and high nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia, a thin upper lip with midline notching, submucous cleft of the soft palate, a small and grooved chin, ear anomalies, Dandy-Walker anomaly, a structural anomaly of the corpus callosum, grey matter heterotopia, and mental retardation. The whole clinical picture of the present patient suggests a 'new' type of frontonasal dysplasia and main differential diagnosis includes the acrofrontofacionasal dysostosis 2 syndrome (MIM 201181). Other differential diagnoses are discussed.