RESUMO
A patient with microbrachycephaly, high forehead, long philtrum, thin upper lip, downturned corners of the mouth, low set ears with overlapping helix, fifth-finger clinodactyly, small hands and feet, bilateral transverse palmar crease, low total finger ridge count, hypotonia, severe growth and psychomotor delay, mild hypoplasia of corpus callosum, and Arnold-Chiari type 1 malformation is reported. The karyotype showed 46, XY, del(1)(q23q31.2). Coagulation factor V (F5, 1q23) and coagulation factor XIII (F13B, 1q31-q32.1) levels were normal. As expected, antithrombin III (AT3, 1q23-q25.1) serum level and activity were half of normal. We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII deficiency.
Assuntos
Antitrombina III/metabolismo , Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Adolescente , Antitrombina III/genética , Criança , Pré-Escolar , Bandeamento Cromossômico , Seguimentos , Haplótipos , Humanos , Lactente , Cariotipagem , Masculino , SíndromeRESUMO
We present a family affected with distal arthrogryposis type IIB (DA IIB) in three generations. The coincidental finding of Dandy-Walker anomaly in the proposita arouses the question whether Dandy-Walker anomaly is part of the DA IIB spectrum or whether the Aase-Smith syndrome belongs to the DA spectrum.
Assuntos
Artrogripose/genética , Ventrículos Cerebrais/anormalidades , Síndrome de Dandy-Walker/genética , Articulações/anormalidades , Adolescente , Adulto , Artrogripose/diagnóstico , Ventrículos Cerebrais/patologia , Criança , Pré-Escolar , Síndrome de Dandy-Walker/diagnóstico , Dermatoglifia , Feminino , Humanos , Articulações/patologia , Imageamento por Ressonância Magnética , MasculinoRESUMO
The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic dysplasia so far described in the literature, with assessment of the phenotypic, orthopedic, and radiologic progression of this syndrome.
Assuntos
Doenças do Desenvolvimento Ósseo/genética , Nanismo/genética , Ectromelia/genética , Acondroplasia/diagnóstico por imagem , Acondroplasia/genética , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Osso e Ossos/diagnóstico por imagem , Criança , Pré-Escolar , Diagnóstico Diferencial , Nanismo/diagnóstico por imagem , Ectromelia/diagnóstico por imagem , Feminino , Seguimentos , Humanos , RadiografiaRESUMO
We describe a girl with midline defects and distal limb anomalies, who had a supernumerary der(22) syndrome. The presence of some anomalies identifying the midline defects, led us to review all patients reported up to now, with interesting results. We point out the particular finding of midline defects in CNS only, in patients studied by autopsy or neuroradiologic imaging.