CE: jeyasri ED: rishika Op: vp MCD: LWW_MCD_200204

Short case report 1

Cenani–Lenz with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report Hisham Jarbhoua, Hanan Hamamya, Azmy Al-Hadidyb and Kamel Ajlounia

Correspondence to Professor Hanan Hamamy, National Centre for Diabetes, Clinical Dysmorphology 2008, 00:000–000 Endocrinology and Genetics, PO Box 13165, Amman 11942, Jordan Tel: + 9626 5353374, + 9626 5347810; fax: + 9626 5353376; aNational Centre for Diabetes, Endocrinology and Genetics and bDepartment of e-mail: [email protected] Radiology, Jordan University Hospital, Amman, Jordan Received 24 May 2007 Accepted 25 September 2007

List of key features Fig. 1 Syndactyly Retrognathia Renal hypoplasia Laryngomalacia Congenital hypothyroidism Congenital dysplasia

Clinical summary and investigations A female child with Cenani–Lenz syndactyly (CLS) is described. The proband showed bilateral malformations of the hands and feet. The patient also had a prominent forehead, deep-set eyes, low-set ears, retrognathia, high- arched narrow palate, a short-beaked nose, and high nasal bridge, (Fig. 1). The hands showed a complex syndactyly and disorganization of the fingers, which could not be identified individually (Figs 2, 3). The feet showed Facial appearance of Cenani–Lenz syndactyly proband. partial disorganization of the toes and partial syndactyly (Fig. 4). The karyotype was 46, XX. The proband had normal developmental milestones and cognitive abilities. Laryngomalacia was diagnosed in infancy. Although there were no clinical criteria of hypothyroidism, thyroid functions testing at 8 months of age showed a higher Fig. 2 than normal thyroid-stimulating hormone level of 6.2, and a repeat at 9 months of 7.89 mU/l (N = 0.47–5.01), T4 of 12.55 pmol/l (N = 9.1–23.6), and T3 of 4.36 pmol/l (N = 2.58–5.44). Taking her young age into consideration, no further investigations were carried out at the endocrine clinic; she was diagnosed as having primary hypothyroidism and started on thyroxin with regular follow-up. Abdominal ultrasonography showed that the right kidney was hypoplastic and ectopic. Radiography of pelvis showed bilateral and dysgenesis of the hip joints. The right hand showed fusion of all metacarpal bones into one mass, with broad, fused, disorganized phalanges and reduction of digital rays. The phalanges of the dorsiflexed little finger were seen overlying the phalanges of the adjacent fused digit. The left hand showed three separate metacarpals with fusion and disorganization of the phalanges and reduction of the Right hand of Cenani–Lenz syndactyly proband. digital rays (Fig. 5).

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Fig. 3 Fig. 5

Radiograph of hands of Cenani–Lenz syndactyly proband: the right hand shows fusion of all metacarpal bones into one mass, with broad, fused, disorganized phalanges and reduction of digital rays. The phalanges of the dorsiflexed little finger are seen overlying the Left hand of Cenani–Lenz syndactyly proband. phalanges of the adjacent fused digit. The left hand shows three separate metacarpals with fusion and disorganization of the phalanges and reduction of the digital rays.

Fig. 4 prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose, a short prominent philtrum, and malar hypoplasia (Temta- my et al., 2003). Our patient showed a similar appearance but had a prominent nasal bridge, beaked nose, and marked retrognathia.

Two reports of renal anomalies associated with CLS included unilateral renal aplasia (Dodinval, 1979) and asymmetric bilateral renal hypoplasia (Bacchelli et al., 2001). Our case is the third reported case with these features. All reported cases with renal aplasia/hypoplasia seem to belong to the /syndactyly type of CLS (Harpf et al., 2004).

The present case showed additional manifestations not reported earlier in CLS, including congenital hypothyr- oidism, laryngomalacia, and congenital dislocation of the Feet of Cenani–Lenz syndactyly proband. . We propose because of our and other observations that CLS is reclassified among the syndromic types of syndactyly. It may be, however, that CLS is genetically heterogeneous but as yet no loci have been identified. Discussion The proband exhibited the limb deformities character- References Bacchelli C, Goodman F, Scambler P, Winter R (2001). Cenani-Lenz syndrome istic of CLS with total complex hand syndactyly. Clinical with renal hypoplasia is not linked to FORMIN or GREMLIN (Letter). Clin features seen in CLS of variable degrees include carpal, Genet 59:203–205. metacarpal, and digital synostoses, disorganization of Dodinval P (1979). Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly. Hum Genet 48:183–189. carpal bones, numeric reduction of digital rays, and Harpf C, Pavelka M, Hussl H (2004). A variant of Cenani-Lenz syndactyly CLS): syndactyly of toes (Nezarati and McLeod, 2002; Harpf review of the literature and attempt of classification. Br J Plas Sur 58: et al., 2004). 251–257. Nezarati MM, McLeod DR (2002). Cenani-Lenz syndrome: report of a new case and review of the literature. Clin Dysmorphol 11:215–218. Temtamy S, Ismail S, Nemat A (2003). Mild facial dysmorphism and Mild facial dysmorphism has been noted earlier in two quasidominant inheritance in Cenani-Lenz syndrome. Clin Dysmorph families where the probands had a high, broad, and 12:77–83. AUTHOR QUERY FORM LIPPINCOTT WILLIAMS and WILKINS

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