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LETTER TO EDITOR
Year : 2015  |  Volume : 16  |  Issue : 2  |  Page : 114-115

Beare-Stevenson syndrome: Rare case report


Department of Pediatrics,Vanivilas Hospital, Bangalore Medical College and Research Institute, Fort, Bangalore, Karnataka, India

Date of Web Publication9-Apr-2015

Correspondence Address:
Mallesh Kariyappa
207/A 3, Sharavathi Block, National Games Village, Koramangala, Bengaluru, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.152124

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How to cite this article:
Kariyappa M, Sekhon PK, Javarappa P, Shilpa S. Beare-Stevenson syndrome: Rare case report. Indian J Paediatr Dermatol 2015;16:114-5

How to cite this URL:
Kariyappa M, Sekhon PK, Javarappa P, Shilpa S. Beare-Stevenson syndrome: Rare case report. Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Jan 22];16:114-5. Available from: http://www.ijpd.in/text.asp?2015/16/2/114/152124

Sir,

An 1-month-old male infant born to nonconsanguineous parentage presented with abnormal facial features and noisy breathing since birth. It was diagnosed as skeletal dysplasia at 23 weeks of gestation by ultrasound. Immediate postnatal history was uneventful except for abnormal features. Vitals were stable. Weight was 3.4 kg, length was 54 cm with the upper segment/lower segment ratio of 1.7:1 and head circumference of 33.5 cm. Abnormal features present were: tower-shaped skull, anterior fontanel 2.5 cm × 2.5 cm, hypertelorism, proptosis, misshapen ears, midfacial hypoplasia, depressed nasal bridge, flattened nasal tip, thick lips, prominent gums, neonatal teeth, deep vertical and diagonal creases (cutis gyratum) in frontal and preauricular region [Figure 1]a and b], a prominent umbilicus, broad flattened fingers and toes, bifid scrotum with ectopic anus [Figure 2]a and b]. There was partial obstruction in nasopharynx and bilaterally normal vesicular breath sounds were heard. Cardiovascular system was clinically normal. Skull X-ray showed craniosynostosis [Figure 2]c]. Echocardiography, cranial and abdominal ultrasound revealed normal study. Features were diagnostic of Beare-Stevenson syndrome (BSS). Surgical interventions (craniectomy, fronto-orbital advancement, correction of an ectopic anus) were refused by parents.
Figure 1: (a) Facial features of Beare-Stevenson syndrome. (b) Lateral view showing characteristic shape of the skull and posteriorly displaced ears

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Figure 2: (a) Bifid scrotum, hypospadias, prominent umbilicus, and ectopic anus. (b) Broad toes with redundant skin. (c) Skull X-ray anteroposterior view showing craniosynostosis

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  Discussion Top


Craniosynostosis is a heterogeneous condition characterized by the premature fusion of the bones of the skull disrupting coordinated growth and resulting in abnormal skull. [1] It is the result of mutation in fibroblast growth-factor receptor (FGFR) at 18 weeks of gestation. BSS is rare craniosynostosis syndrome characterized by craniosynostosis, cutis gyratum, acanthosis nigricans, ear defects, broad toes and fingers, prominent umbilical stump, bifid scrotum, cryptorchidism, hypospadias, and ectopic anus. It is one of the craniosynostosis syndromes associated with FGFR2 mutations, others being Apert syndrome (AS), Crouzon syndrome (CS), Pfeiffer syndrome (PS), Jackson-Weiss syndrome (JWS) that need to be differentiated. [2] Two activating point mutations, p.Y375C and p.S372C, in FGFR2 account for most of BSS. AS has characteristic symmetric syndactyly, central nervous system abnormalities, and genitourinary anomalies that are different from those described in BSS. Broad thumb and toes are seen in BSS, JWS, and PS. Presence of tarsal/metatarsal coalitions in JWS, carpal fusion in CS, and radio-ulnar-humeral synostosis in PS help differentiate. [3] Mimicker familial craniosynostosis, anal anomalies, porokeratosis syndrome do have cutaneous porokeratosis but not cutis gyratum. [1] Acanthosis nigricans suggest CS or BSS, acneiform eruptions suggest AS and cutis gyrate in BSS. [2],[4],[5] Management requires a team approach. Craniectomy, fronto-orbital advancement to reduce intracranial tension and allow brain growth. [6] Surgical correction of anogenital anomalies, visual evaluation, auditory interventions is also to be done. Ultrasound, magnetic resonance imaging, and FGFR2 mutations analysis in the second trimester of pregnancy allow definitive diagnosis, although phenotypic variation is possible between different syndromes sharing FGFR2 mutation. Medical termination is advisable in case of antenatal diagnosis.

 
  References Top

1.
Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, et al. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. J Med Genet 1998;35:763-6.  Back to cited text no. 1
    
2.
Vargas RA, Maegawa GH, Taucher SC, Leite JC, Sanz P, Cifuentes J, et al. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. Am J Med Genet A 2003;121A: 41-6.  Back to cited text no. 2
    
3.
Ferreira JC, Carter SM, Bernstein PS, Jabs EW, Glickstein JS, Marion RW, et al. Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. Ultrasound Obstet Gynecol 1999;14:426-30.  Back to cited text no. 3
    
4.
Solomon LM, Fretzin D, Pruzansky S. Pilosebaceous abnormalities in Apert's syndrome. Arch Dermatol 1970;102:381-5.  Back to cited text no. 4
[PUBMED]    
5.
Reddy BS, Garg BR, Padiyar NV, Krishnaram AS. An unusual association of acanthosis nigricans and Crouzon's disease - a case report. J Dermatol 1985;12:85-90.  Back to cited text no. 5
[PUBMED]    
6.
Bartlett SP. Craniosynostosis syndromes. Part III: Congenital anomalies and pediatric plastic surgery. In: Thorne CH, editor. Grabb and Smith's Plastic Surgery. 6 th ed. Lippincott Williams and Wilkins: A Wolters Kluwer business; 2007. p. 237-47.  Back to cited text no. 6
    


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