Whistling face phenotype without limb abnormalities

✍ Scribed by Toydemir, Pinar Bayrak; Toydemir, Reha; B�kesoy, I??k

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 8 KB
• Volume: 86
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19990903)86:1<86::aid-ajmg17>3.0.co;2-9

✦ Synopsis

Whistling face syndrome is classified as a distal arthrogryposis. There is evident heterogeneity and great variability, and more than 60 cases have been reported with different names so far. Here we report on a 2-yearold girl with a whistling face phenotype who was born to normal nonconsanguineous parents. She has all of the facial characteristics of this syndrome without limb anomalies. To our knowledge such a case of whistling face syndrome, without limb abnormalities has not been reported so far.

Whistling face syndrome is classified as a distal ar-throgryposis . The critical point in this classification is the limb anomalies. Although wide clinical variability is reported, all of the reported cases to date have some anomalies either in upper and/ or lower limbs; however, the typical face is present in only 50% of patients .

Recently, we saw a 27-month-old girl who was born by breech presentation after 38 weeks of an uncomplicated pregnancy. At birth, her father was 35 and mother 29 years old, both healthy. Family history was unremarkable. She weighed 2,880 g (3-10%) and was 43 cm long (<3 centile) at birth. In addition she had a mask-like face, frontal bossing, apparently low-set and protruding ears, deep-set eyes, hypertelorism, epicanthus, strabismus, flat nasal bridge, anteverted nostrils, small nose, long-smooth-wide philtrum, microstomia, reduced opening of the mouth, groove in the upper and lower lips, high-arched palate, and H-shaped dimple of the chin (Fig. ). Other findings were a short, wide neck, wide internipple distance, three cafe ´-au-lait spots on the thorax, and lower abdomen ranging from 0.5 to 3 cm. Her karyotype was normal (46,XX). Physical and radiological examination of limbs yielded normal results except for bilateral clinodactyly of 5th fingers, which was also present in her mother (Figs. and). Ultrasonography of cranium, abdomen, and hip gave