Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/14088
Descripción de un nuevo caso de síndrome de Bohring-Opitz (o de Oberklaid-Danks)
Aldea-Romero, AE | López-Dueñas, A | Rubio-Jiménez, ME | Hernández-Bejarano, MJ | García-García, A | Martinez-Fernandez, Maria Luisa ISCIII | Bermejo-Sanchez, Eva ISCIII | Martínez-Frías, María Luisa ISCIII
Boletín del ECEMC: Rev Dismor Epidemiol 2011; VI (nº 1): 18-26
In 1999, Bohring et al. reported a new syndrome clinically distinguishable from cases with C syndrome or Opitz trigonocephaly. All the patients showed failure to thrive, microcephaly with metopic suture ridging, nevus flammeus over the forehead, thick hair and forehead hirsutism, shallow orbits with prominent eyes, depressed nasal root, anomalous ears, retrognathia, cleft lip and palate, flexion deformities of the upper limbs with radial head dislocation and ulnar deviation of fingers. Patients have severe developmental delay, sucking and swallowing difficulties starting in the prenatal period, as suggested by the usual polyhydramnios. The brain anomalies include hydrocephaly/large ventricles, agenesis/hypoplasia of corpus callosum, Dandy-Walker malformation, myelin abnormalities, and cortical atrophy. Occasional symptoms are a small or closed fontanel at birth, inguinal hernias and cryptorchidism in males, and intestinal malrotation. Most patients die early in childhood because of bradycardia and apnea. Although there is an overlap between C-like syndrome and C syndrome, different manifestations in these patients suggest a different entity. This new syndrome has been called (apart from C-like syndrome) Bohring-Optiz or Oberklaid-Danks syndrome. Recently, it has been associated in some patients to heterozygous de novo nonsense mutations in ASXL1 gene, which is required for maintenance of both activation and silencing of Hox genes, suggesting that the syndrome is genetically Heterogeneous. Here we describe the first case of this syndrome identified in the Spanish Collaborative Study of Congenital Malformations (ECEMC) Registry, and possibly in Spain. Therefore, its minimal frequency has been estimated in 1:2,648,286 newborn infants.
Dismorfología y Genética Clínica