Beckwith–Wiedemann syndrome with overlapping Perlman syndrome manifestation

Abstract

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia - gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS.

Beckwith-Wiedemann syndrome. Clinical and etiopathogenic aspects of a model genomic imprinting entity

“…There are other overgrowth entities, including the Sotos, Simpson-Golabi-Behmel, Costello, 8,20,21 and Perlman syndromes, 20,21 which may hinder the possibility of establishing the difference in the prenatal period. Other endocrine diseases, such as congenital hypothyroidism, metabolic alterations with facial dysmorphism, such as mucopolysaccharidosis (Hurler, Hunter, and Maroteaux-Lamy syndromes), besides gangliosidosis and Pompe disease, should be ruled out.…”

“…12 In addition, maternal point mutations in the CDKN1C gene account for 5-10% of cases 1,[4][5][6]9,10 and are responsible for 5% of sporadic cases 1,4 and half of the cases with a positive family history, 1,6,7 preferably maternal and with an autosomal dominant inheritance pattern. 21 For this reason, most BWS cases are rare. 10,21 Polydactyly, supernumerary nipples, and cleft palate are most commonly observed in this type of gene alteration.…”

“…21 For this reason, most BWS cases are rare. 10,21 Polydactyly, supernumerary nipples, and cleft palate are most commonly observed in this type of gene alteration. 11 Omphalocele occurs more frequently in patients with hypomethylation of IC2 2,6 or point mutations in the CDKN1C gene.…”

Síndrome de Beckwith-Wiedemann. Aspectos clínicos y etiopatogénicos de una entidad ejemplo de impronta genómica

“…12 A d e m á s , l a s m u t a c i o n e s p u n t u a l e s maternas en CDKN1C representan 5-10% de los casos 1,4,5,6,9,10 y son responsables de 5% de los casos esporádicos 1,4 y la mitad de los casos con historia familiar positiva, 1,6,7 con preferencia materna y patrón de herencia autosómico dominante. 21 Es por ello por lo que la mayoría de los casos del SBW son esporádicos. 10,21 La polidactilia, los pezones supernumerarios y el paladar hendido se observan con mayor frecuencia en este tipo de alteración génica.…”

“…21 Es por ello por lo que la mayoría de los casos del SBW son esporádicos. 10,21 La polidactilia, los pezones supernumerarios y el paladar hendido se observan con mayor frecuencia en este tipo de alteración génica. 11 El onfalocele ocurre con mayor frecuencia en pacientes con hipometilación de CI22, 6 o Tabla 2.…”