Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; 193700). There are rare reports of presumably autosomal recessive inheritance ... Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; 193700). There are rare reports of presumably autosomal recessive inheritance (summary by Altunhan et al., 2010).
The whistling face syndrome was first described as craniocarpotarsal dystrophy by Freeman and Sheldon (1938). Burian (1963) rediscovered the entity and called it the 'whistling face syndrome.'
Zampino et al. (1996) described a sporadic case of ... The whistling face syndrome was first described as craniocarpotarsal dystrophy by Freeman and Sheldon (1938). Burian (1963) rediscovered the entity and called it the 'whistling face syndrome.' Zampino et al. (1996) described a sporadic case of the whistling face syndrome in a boy who also had severe hypertonicity, swallowing problems, and cerebellar and brainstem atrophy. The authors suggested that primary brain anomalies may explain many manifestations of the syndrome. They noted that it might be more appropriate to speak about the Freeman-Sheldon spectrum (193700) rather than syndrome because of the different pathogenetic mechanisms (muscular, skeletal, and neurologic), the wide range of clinical manifestations, and the genetic heterogeneity. Altunhan et al. (2010) reported a 22-day-old boy, born of consanguineous Turkish parents, with whistling face syndrome. He was of small build with poor feeding, microcephaly, and decreased activity. His abnormal facial appearance included pinched lips, small mouth, microretrognathia, dimpling of the chin, prominent nasolabial folds, long philtrum, and a whistling-facial appearance particularly when crying. Both hands were contracted, with camptodactyly and ulnar deviation of the third and fourth fingers. Other features included bilateral inguinal hernias and cryptorchidism. He developed episodic high fever without evidence of infection or malignant hyperthermia that occurred every 2 to 3 days. During follow-up, he was reported to have gastrointestinal reflux and frequent lung infections.