RESUMEN
We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings are defects of blastogenesis, originate in the primary developmental field and/or the progenitor fields, thus representing polytopic field defects. This concept appears applicable in our cases and makes such terms such as "caudal regression syndrome" or "axial mesodermal dysplasia spectrum" redundant.
Asunto(s)
Anomalías Múltiples , Vértebras Lumbares/anomalías , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/embriología , Anomalías Múltiples/mortalidad , Adulto , Consanguinidad , Resultado Fatal , Femenino , Feto/anomalías , Feto/diagnóstico por imagen , Edad Gestacional , Humanos , Lactante , Recién Nacido , Vértebras Lumbares/diagnóstico por imagen , Vértebras Lumbares/embriología , Masculino , Radiografía , SíndromeRESUMEN
We report on four unrelated cases of an Opitz trigonocephaly (C)-like syndrome with a highly characteristic combination of facial anomalies including prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs and multiple other anomalies. We also review two very similar published cases formerly considered to have the C syndrome. Although there is overlap, a clinical distinction from the Opitz trigonocephaly and other syndromes seems possible, and thus a specific causal entity may be postulated.
Asunto(s)
Anomalías Múltiples/clasificación , Encéfalo/anomalías , Anomalías Craneofaciales/clasificación , Femenino , Humanos , Lactante , Masculino , SíndromeRESUMEN
We report on a newborn boy with congenital asymmetrically hypoplastic fibulae, lateral oligodactyly, and mild left ectrodactyly. The patient's grandfather had a short femoral shaft with a slightly smaller collodiaphyseal angle on the left as compared to the right side, probably a proximal focal femoral deficiency (PFFD). The upper limbs were not affected in either patient. PFFD in the grandfather and hypoplastic fibulae with lateral ray defects in the grandson raise the possibility of genetic transmission, specifically autosomal-dominant inheritance with variable penetrance and expressivity. This case gives further support to the fibular developmental field concept postulated by Lewin und Opitz [1986: Am J Med Genet (Suppl) 2:215-238].
Asunto(s)
Enfermedades del Desarrollo Óseo/congénito , Enfermedades del Desarrollo Óseo/genética , Ectromelia/genética , Peroné , Deformidades Congénitas del Pie/genética , Humanos , Recién Nacido , Cariotipificación , Diferencia de Longitud de las Piernas/congénito , Diferencia de Longitud de las Piernas/genética , MasculinoRESUMEN
We report on an infant boy with facial anomalies, hypoplasia of corpus callosum, cerebral atrophy, cleft of lower sternum, absence of palpable medial abdominal muscles omphalocele, hypospadias, and other anomalies. This combination of congenital anomalies seems not to have been described before. A clear distinction from other syndromes and associations with midline defects seems possible, and thus a specific entity may be postulated.
