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Table of Contents
Year : 2013  |  Volume : 17  |  Issue : 4  |  Page : 763

Cornelia de Lange syndrome

1 Department of Endocrinology, ESI Hospital, Hyderabad, Andhra Pradesh, India
2 Department of Endocrinology, Osmania General Hospital, Hyderabad, India
3 Department of Endocrinology, Command Hospital, Lucknow, Uttar Pradesh, India

Date of Web Publication20-Jun-2013

Correspondence Address:
K. V. S. Hari Kumar
Department of Endocrinology, Command Hospital, Lucknow - 226 002, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2230-8210.113779

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How to cite this article:
Reddy H B, Neelaveni K, Hari Kumar K. Cornelia de Lange syndrome. Indian J Endocr Metab 2013;17:763

How to cite this URL:
Reddy H B, Neelaveni K, Hari Kumar K. Cornelia de Lange syndrome. Indian J Endocr Metab [serial online] 2013 [cited 2020 Jul 5];17:763. Available from: http://www.ijem.in/text.asp?2013/17/4/763/113779


A 9-year-old girl was brought by parents for evaluation of short stature. The girl is a product of non-consanguineous marriage and was delivered pre-term by cesarean section with birth weight of 1.5 kg. The parents noticed delays in milestones during development. Her scholastic performance was below average and parents denied any features to suggest neurological disease. Parents denied birth trauma or similar illness in other family members. Examination revealed severe short stature (112 cm, <3 rd centile), height SDS, (Standard Deviation Score) 3.5; upper/lower segment ratio, 0.9; head circumference, 46 cm; and underweight (19 kg, <3 rd centile). She had low anterior hair line, synophrys (bushy eyebrows meeting in mid-line), arched eye brows, low set ears, and maxillary hypoplasia [[Figure 1]a]. Other examination revealed small hands, clinodactyly [[Figure 1]b], single palmar crease, and hypertrichosis [[Figure 1]c]. She was pre-pubertal with B1P1 on Tanner staging and rest of the systemic examination was normal. She was clinically diagnosed as a case of Cornelia de Lange syndrome (CDLS). Her investigations revealed normal hematological and biochemical parameters with bone age of 8 years. Thyroid panel was diagnostic of subclinical hypothyroidism (Thyroid Stimulating Hormone TSH: 8.4 mIU/mL with normal T3 and T4). She was evaluated for growth hormone deficiency after adequate thyroxine replacement. Peak Growth hormone GH < after stimulation was 2.4 ng/mL and she was started on GH replacement therapy. Her echocardiography was normal and karyotyping revealed 46XX. Intelligence Quotient testing revealed score of 70 equivalent to a 5-year-old child. She continued to receive GH and Thyroxine therapy along with psychosocial rehabilitation program. During last review, she gained 10 cm in 1 st year of GH therapy.
Figure 1: Clinical photograph

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CDLS is a relatively uncommon genetic disorder characterized by growth retardation, developmental delay, hirsutism, mental retardation, and structural abnormalities. [1] The vast majority of cases are due to spontaneous mutations involving genes like NIPBL on chromosome 5, SMC1A on X chromosome, and SMC3 on chromosome 10. [2] The diagnosis of CDLS is clinical based on signs and symptoms. Two phenotypes are described with type 1 is the classical variety and type 2 being the mild variant. Short stature in CDLS is due to GH deficiency and resistance. [3] The patients show good response to GH therapy in former. The life expectancy is limited to few years only and the common cause of death is pneumonia along with cardio-respiratory structural abnormalities.

   References Top

1.Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, Fitz Patrick DR, et al. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007;143A:1287-96.  Back to cited text no. 1
2.Johns DA, Bhonsale DL, Shivashanker VY, Johns M. Aesthetic and functional management of a patient with Cornelia de Lange syndrome. Contemp Clin Dent 2012;3:S86-91.  Back to cited text no. 2
3.Kousseff BG, Thomson-Meares J, Newkirk P, Root AW. Physical growth in Brachmann-de Lange syndrome. Am J Med Genet 1993;47:1050-2.  Back to cited text no. 3


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