Upper limb malformations in DiGeorge syndrome

Cormier‐Daire, Valérie; Iserin, Laurence; Theophile, Didier; Dahi, Sidi; Vervel, C.; Padovani, J; Vekemans, Michel; Münnich, Arnold; Lyonnet, Stanislas

doi:10.1002/ajmg.1320560111

Cited by 32 publications

(17 citation statements)

References 10 publications

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“…He did not have cardiac anomalies and serum calcium level was normal. He had polydactyly which was reported previously in DGS [Cormier-Daire et al, 1995].…”

Section: Discussionsupporting

confidence: 51%

Deletion of 22q11 in two brothers with different phenotype

et al. 1998

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We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowledge, this is the first report of a deletion of 22q11 in two sibs with different phenotypes and apparent maternal mosaicism detected with FISH. This family illustrates the variability of the syndrome and further demonstrates the possibility of gonadal mosaicism for a microdeletion. Prenatal diagnosis may be offered after the birth of a child with a 22q11 deletion, even in the absence of parental chromosomal anomalies.

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“…He did not have cardiac anomalies and serum calcium level was normal. He had polydactyly which was reported previously in DGS [Cormier-Daire et al, 1995].…”

Section: Discussionsupporting

confidence: 51%

Deletion of 22q11 in two brothers with different phenotype

et al. 1998

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“…Cleft palate, thymic hypoplasia, preaxial polydactyly and the holoprosencephalic spectrum have all been described with deletion 22q11.2 [Cormier-Daire et al, 1995]. Features in our case shared with CHARGE syndrome include arhinencephaly, microphthalmia, cleft palate, ear anomalies, and micropenis [Lalani et al, 2006].…”

Section: Discussionmentioning

confidence: 51%

Bifid tongue: A rare feature associated with infants of diabetic mother syndrome

James

Culver

Hall

et al. 2007

American J of Med Genetics Pt A

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Infants born to diabetic mothers (IDM) are well documented to have a higher rate of congenital malformations. Sacral agenesis/hypogenesis and caudal dysgenesis are classically linked to maternal diabetes, but many other types of anomalies are more frequent. In this case report, we describe a male infant born to a diabetic mother who in addition to other typical congenital abnormalities was born with an impressive bifid tongue. Accompanying congenital anomalies include unilateral microphthalmia, bilateral microtia, cleft palate, micropenis with unilateral cryptorchidism, bilateral radial hypoplasia, unilateral pre-axial polydactyly, and mid-line central nervous system defects including arhinencephaly and pituitary hypoplasia. Review of the literature reveals an additional case of an infant with a bifid tongue born to a diabetic mother [Comess et al., 1969]. In conclusion, bifid tongue without oral hamartoma, a rare congenital anomaly, can be an associated finding in IDM.

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“…The mother had ulnar deviation of the right thumb distal phalanx and her daughter had unilateral postaxial polydactyly. Previously reported foot anomalies include clubfoot and left metatarsus varus [Cormier-Daire et al, 1995]. This report is the first large retrospective study of a series of patients with a 22q11.2 deletion for the presence of skeletal anomalies.…”

Section: Discussionmentioning

confidence: 81%

“…Cormier-Daire et al [1995] reported on 2 patients with a 22q11.2 deletion. One had a right duplicated first phalanx, and the other had bilateral club hands with a hypoplastic left thumb and first metacarpal, and a vestigial right thumb.…”

Section: Discussionmentioning

confidence: 99%

“…Major manifestations include palatal anomalies such as overt cleft palate and velopharyngeal insufficiency, conotruncal heart defects, hypocalcemia, immune deficiency, and characteristic facial anomalies. There have been a few reports of skeletal malformations in individuals with a deletion of 22q11.2, primarily hand abnormalities [Cormier-Daire et al, 1995;Dinulos et al, 1996;Saal et al, 1996;Shalev et al, 1996;Suslak et al, 1996;Wilson et al, 1993]. Clubfoot has also been reported .…”

Section: Introductionmentioning

confidence: 99%

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Skeletal anomalies and deformities in patients with deletions of 22q11

et al. 1997

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Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs, 7 of the upper limb, including preaxial or postaxial polydactyly. An anomaly of the lower limb was found in 16 patients, including postaxial polydactyly, clubfoot, severely overfolded toes, and 2-3 toe cutaneous syndactyly. Chest films of 63 patients were examined; 30% of them had abnormal findings, most commonly supernumerary ribs (17%) or a "butterfly" vertebral body (11%). Hypoplastic vertebrae, hemivertebrae, and vertebral coronal clefts were also noted. Thus, skeletal anomalies are not uncommon in patients with a 22q11.2 deletion and may occur more frequently than recognized previously.

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Upper limb malformations in DiGeorge syndrome

Cited by 32 publications

References 10 publications

Deletion of 22q11 in two brothers with different phenotype

Deletion of 22q11 in two brothers with different phenotype

Bifid tongue: A rare feature associated with infants of diabetic mother syndrome

Skeletal anomalies and deformities in patients with deletions of 22q11

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