Malpuech facial clefting syndrome in a Japanese boy with cardiac defects

Abstract

SummaryWe reported on a Japanese boy similar to the patients previously reported by Malpuech et al. (1983) with mental and growth retardation, hypertelorism, bilateral cleft lips, cleft palate, and urogenital anomalies. He also had undescribed cardiac defects. This is probably the second case report of Malpuech facial clefting syndrome.

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?

“…For Malpuech syndrome, data from all earlier reported patients were used [Malpuech et al, 1983;Chinen and Naritomi, 1995;Guion-Almeida, 1995;Crisponi et al, 1999;Kerstjens-Frederikse et al, 2005], although it seems well possible that Patient 2 reported by Guion-Almeida has in fact Wolf-Hirschhorn or Pitt-Rogers-Danks syndrome [Selicorni and Faravelli, 2000]. The single patient reported in an abstract [Hall, 2004] could not be used due to lack of sufficiently detailed data.…”

Malpuech Syndrome: A Possible Relationship With the Wolf-Hirschhorn/Pitt-Roger-Danks Phenotype

“…A few cases of Malpuech syndrome have been reported [Malpuech et al, 1983;Guion-Almeida et al, 1995;Chinen and Naritomi, 1995]. In our opinion, facial gestalt of these, in particular patient 1 reported by Crisponi et al [1999] and patient 3 of Guion-Almeida et al [1995], resembles the Wolf-Hirschorn/Pitt-RogerDanks (WHS/PRDS) facial phenotype.…”

Two sibs with Malpuech syndrome

“…In the patients described by Guion-Almeida [1995], omphalocele, umbilical hernia, caudal appendage, and hearing loss were also present. The patient described by Chinen and Naritomi [1995] also showed ventricular septal defect, skin dimples at elbows and knees, ribs and vertebral anomalies, wormian bones at the lambdoid suture, short left fifth finger middle phalanx, and absence of left kidney. The phenotypic findings in the first-born, particularly the saddle scrotum, led us to consider the diagnosis of Aaskorg syndrome [Aaskorg, 1970].…”

“…Malpuech et al [1983] first described the syndrome in 4 sibs in one gypsy family. Subsequently, Chinen and Naritomi [1995] and Guion-Almeida [1995] reported 4 additional patients. Here, we report on 2 brothers with this clinical condition.…”