Oral‐facial‐digital syndrome: Report on a transitional type between the Mohr and Váradi syndromes in a fetus

Camera, G; Marasini, Maurizio; Pozzolo, Silvano; Camera, Andrea

doi:10.1002/ajmg.1320530215

Cited by 21 publications

(12 citation statements)

References 14 publications

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“…In our case, the discrepancy may also be a function of developmental age, as most of the manifestations of OFDS VI have been described in children rather than immature fetuses, and fetal phenotypes may be different from those found in term infants [Baldwin et al, 1982]. Many manifestations of OFDS VI also overlap with other OFDS and other midline malformation complexes, including OFDS I (Mohr syndrome) [Camera et al, 1994], Pallister Hall syndrome [Bankier et al, 1994;Muenke et al, 1991], hydrolethalus syndrome [Muenke et al, 1991] and Opitz trigonocephaly (or C) syndrome [Cleper et al, 1993]. Transitional cases similar to those with short-rib polydactyly syndromes have also been reported [Franceschini et al, 1995], which have led some authors to propose a broader categorization of all of these syndromes under the rubic ''oral-facial-skeletal (OFS) syndromes'' [Neri et al, 1995].…”

Section: Discussionmentioning

confidence: 65%

Neuropathologic findings in a case of OFDS type VI (V�radi syndrome)

et al. 1998

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Oral-facial-digital syndrome type VI (OFDS VI) or Váradi syndrome is a rare autosomal-recessive disorder distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Histopathologic characterization of the cerebellar abnormalities has not been described previously. We describe the neuropathologic findings in a stillborn, 21-week estimated gestational age (EGA) male fetus diagnosed antenatally with signs of OFDS VI. Autopsy findings included: facial abnormalities, postaxial central polydactyly of the right hand, bilateral bifid toes, and absence of cerebellar vermis with hypoplasia of the hemispheric cortex. Microscopic analysis of the cerebellum demonstrated absence of the subpial granular cell layer and disruption or dysgenesis of the glial architecture. These histopathologic findings suggest that a primary neuronal or glial cell defect, rather than an associated Dandy-Walker malformation, may account for the cerebellar abnormalities in this form of oral-facial-digital syndrome.

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Section: Discussionmentioning

confidence: 65%

Neuropathologic findings in a case of OFDS type VI (V�radi syndrome)

et al. 1998

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“…Some authors [16,19] found central polydactyly with forked metacarpal in OFDII but others [20,21] consider forked metacarpal a cardinal feature of OFDVI. Central nervous system (CNS) malformations, rarely present in other types of OFD syndromes, are most consistent with OFDI and OFDVI [22].…”

Section: Discussionmentioning

confidence: 99%

The Many Faces of Oral-Facial-Digital Syndrome

Sukarova-Angelovska

Angelkova²,

Palcevska-Kocevska

et al. 2012

Balkan Journal of Medical Genetics

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The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.

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“…9 The sonographic antenatal identification of polydactyly and a heart defect in a family with no history of malformations suggested features of both types II and VI OFD syndromes. 10 OFD syndrome, type I, has been reported postnatally. 1,11 Infants with this syndrome have micrognathia, cleft palate, multiple frenula (as did our case), and extensive milia (small, subepidermal keratin cysts, common in neonates).…”

Section: Discussionmentioning

confidence: 99%