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Review
. 2007 Aug 15;145C(3):248-60.
doi: 10.1002/ajmg.c.30137.

Natural History of Aging in Cornelia De Lange Syndrome

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Free PMC article
Review

Natural History of Aging in Cornelia De Lange Syndrome

Antonie D Kline et al. Am J Med Genet C Semin Med Genet. .
Free PMC article

Abstract

Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype-phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made.

Figures

Figure 1
Figure 1
AJ: Composite of more typical facies from younger to older; (KR) composite of less typical facies from younger to older. Patients shown in subparts A,D,E,H,I,M,N,P,Q,T are females.
Figure 2
Figure 2
Otolaryngologic findings. Note unrepaired cleft palate in (A) and submucous cleft palate in (B).
Figure 3
Figure 3
Extremity findings. Note unusual presentation of postaxial polydactyly in (A) and of complete syndactyly of toes 1– 3 in (B). Unrepaired club foot, as in (C), was seen in several patients.
Figure 4
Figure 4
A: Marked hypertrichosis on the back of a 20-year-old patient. Cutis verticis gyrata in two unrelated male patients in (B,C).

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