Poikiloderma, Alopecia, Retrognathism and Cleft Palate: The PARC Syndrome

Verloès, Alain; Soyeur-Broux, Monique; Arrese-Estrada, Jorge; Piérard-Franchimont, C; Dodinval, P; Pierard, Gérald

doi:10.1159/000247904

Cited by 7 publications

(4 citation statements)

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“…These factors, plus autosomal recessive inheritance, make this condition distinguishable from JMS. Verloes et al [1990] described a new autosomal dominant syndrome that combined poikiloderma, alopecia, retrognathism, and cleft palate (the PARC syndrome). The proposita had alopecia with absent eyebrows and eyelashes, as well as severe microretrognathism and median posterior cleft palate without glossoptosis.…”

Section: Discussionmentioning

confidence: 99%

Johnson–McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case

Schweitzer¹,

Yano

Earl

et al. 2003

American J of Med Genetics Pt A

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In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives.

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Section: Discussionmentioning

confidence: 99%

Johnson–McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case

Schweitzer¹,

Yano

Earl

et al. 2003

American J of Med Genetics Pt A

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“…Poikiloderma can occur on the nose of an affected individual [6]. Poikiloderma is also present in xeroderma pigmentosum, Werner syndrome, and other, very rare hereditary disorders [14]. The Bloom syndrome, which is often classified within the congenital poikiloderma is not a poikilodermatous but a telangiectatic disorder.…”

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confidence: 99%

What Is Poikiloderma?

Lipsker¹

2003

Dermatology

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“…Cohen [1976Cohen [ , 1979Cohen [ , 1981Cohen [ , 1982Cohen [ , 1989Cohen [ , 1990Cohen [ , 1996Cohen [ , 1997aCohen [ , 1997b and Kreiborg and Cohen [1996]. Updated from Shprintzen [1988], Carey et al [1982], Chitayat et al [1991], RichieriCosta and Pereira [1992], Stoll et al [1992], Verloes et al [1990], Bruce and Winship [1993], Schimke et al [1993], Abruzzo and Erickson [1977], Sanderson andFraser [1983] Toriello andCarey [1988], Schrander-Stumpel et al [1991], and Froster-Iskenius et al [1988]. a Some cases represent infants of diabetic mothers.…”

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confidence: 99%