On lumping and splitting: A fetus with clinical findings of the oral‐facial‐digital syndrome type VI, the hydrolethalus syndrome, and the Pallister‐Hall syndrome

Muenke, Maximilian; Ruchelli, Eduardo D.; Rorke, Lucy B.; McDonald‐McGinn, Donna M.; Orlow, Michael K.; Isaacs, Ann; Craparo, Frank; Dunn, Linda; Zackai, Elaine H.

doi:10.1002/ajmg.1320410436

Cited by 48 publications

(23 citation statements)

References 31 publications

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“…Additional clinical and radiographic findings of OFDS VI have been elaborated in a review of OFDS by Toriello [1993]. Similar to our case, intrafamilial variability between affected sibs has also been reported in OFDS VI [Muenke et al, 1991]. Only a few well-documented cases of OFDS VI have been described [Vá radi et al, 1980;Mü nke et al, 1990].…”

Section: Discussionsupporting

confidence: 82%

“…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: 66%

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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: Discussionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 66%

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

et al. 1998

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“…Encha-Razavi et al [1992] reported on 3 unrelated cases, the third one presenting with hamartoma and encephalocele. The problems of differential diagnosis have been further illustrated and discussed in several revcent case reports [Hingorani et al, 1991;Muenke et al, 1991;Hennekam et al, 19911. …”

Section: Note Added In Proofmentioning

confidence: 98%

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the Cerebro‐Acro‐Visceral Early lethality (CAVE) multiplex syndrome

et al. 1992

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We report on a case of neonatal hypothalamic hamartoblastoma with holoprosencephaly, Hirschsprung disease, and tetramelic postaxial polydactyly. Twenty-seven previous cases of congenital hypothalamic embryonic tumours with associated congenital defects are reviewed. A classification in isolated, associated, and syndromal forms is proposed. The difficulties encountered in differential diagnosis between the syndromal form (mainly represented by the Pallister-Hall syndrome) and related diseases as Smith-Lemli-Opitz type II, holoprosencephaly-polydactyly, orofaciodigital type VI and hydrolethalus syndromes are outlined. Two pathogenic mechanisms are discussed: a classical pleiotropic model and single sequence model. The latter is sufficient to delineate syndromal hypothalamic hamartoblastoma. With the former, syndromal hypothalamic hamartoblastoma cannot be clearly recognized in the absence of a CNS tumour, a child with syndromal hypothalamic hamartoblastoma cannot be reliably diagnosed as Pallister-Hall rather than another MCA syndrome, and, ultimately, the existence of Pallister-Hall syndrome could be questioned, as it could only be the extreme expression of one or several other syndromes. As this hypothesis cannot be proven or disproven at this point, the authors suggest creating the concept of multiplex phenotype. "Cerebro-Acro-Visceral Early lethality multiplex syndrome" is suggested to encompass all the ambiguous cases. Within this complex, an operative classification key is proposed.

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“…It is noteworthy that two of the five patients did not have prominent facial anomalies characteristic of OFDS II, therefore "orocardiodigital variant" was pointed out by Maria et al [1996]. There were only three fetuses with a combination of hydrolethalus, PHS, and OFDS VI who had endocardial cushion defect [Hingorani et al, 1991;Muenke et al, 1991]. We would like to highlight the association of OFDS II, Y-shaped fourth metacarpals, hypoplastic epiglottis, and atrioventricular canal seen in our patient as an additional subgroup of OFDS.…”

Section: Discussionmentioning

confidence: 75%

Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect

Hsieh¹,

Hou²

1999

Am. J. Med. Genet.

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We report on a boy with pseudo-cleft of the upper lip, cleft palate, bifid uvula, lobulated tongue, hypoplasia of the epiglottis, both preaxial and central polydactyly of the hands (Y-shaped fourth metacarpals), bilateral preaxial polydactyly of the feet, postaxial polydactyly of the left foot, hearing impairment, and congenital heart disease with endocardial cushion defect. These clinical manifestations resembled oral-facial-digital syndrome type II (OFDS II, Mohr syndrome) or type VI (Váradi syndrome), associated with an atrioventricular canal. Clinical variability of OFDS II has been observed repeatedly. To the best of our knowledge, this is the first reported case of OFDS II with Y-shaped fourth metacarpals. In addition to Y-shaped fourth metacarpals, Mohr syndrome plus atrioventricular canal and hypoplasia of the epiglottis may represent an additional subgroup of OFDS.

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On lumping and splitting: A fetus with clinical findings of the oral‐facial‐digital syndrome type VI, the hydrolethalus syndrome, and the Pallister‐Hall syndrome

Cited by 48 publications

References 31 publications

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

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

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the Cerebro‐Acro‐Visceral Early lethality (CAVE) multiplex syndrome

Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect

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