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Progressive neurological deterioration in a child with distal arthrogryposis and whistling face
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  1. DORIT LEV*,
  2. MIRIAM YANOOV*,
  3. SHLOMO WEINTRAUB,
  4. TALLY LERMAN-SAGIE
  1. * Department of Medical Genetics, Wolfson Medical Centre, Holon, Israel 58100
  2. Paediatric Neurogenetic-Metabolic Clinic, Wolfson Medical Centre, Holon, Israel 58100
  3. Paediatric Orthopaedic Department, Dana Children's Hospital, Tel-Aviv Medical Centre, Tel-Aviv, Israel

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    Editor—Freeman-Sheldon syndrome (FSS) (McKusick 193700), described in 1938, is characterised by a whistling face with a long philtrum, a puckered mouth, microstomia, H shaped cutaneous dimpling on the chin, multiple joint contractures with camptodactyly, ulnar deviation of the fingers, bilateral talipes equinovarus, and kyphoscoliosis.1 Burian rediscovered the entity and called it the “whistling face syndrome”.2 There is genetic heterogeneity.3-6 Both autosomal dominant7 8 and recessive inheritance9-12have been described.

    The psychomotor development of affected children is usually normal in the autosomal dominant forms,6 13 14 although mild motor delay attributable to joint anomalies has been reported occasionally.3 15-18 A few patients with severe developmental retardation have been described, all with autosomal recessive inheritance.19-22

    We describe a child who presented from birth with distal arthrogryposis, profound mental retardation, severe hypotonia, and whistling face. The severe neurological involvement precludes him from having FSS according to the classification of Bamshadet al.23 We suggest that patients with a whistling face, distal contractures, and severe neurological involvement should be diagnosed as having a separate autosomal recessive syndrome.

    The patient was the first child of non-consanguineous, healthy, Moroccan Jews. The pregnancy was attained by in vitro fertilisation and was unremarkable. He was born at 42 weeks' gestation. Apgar scores were 4 at one minute and 6 at five minutes; pH was 7.11 and improved with bicarbonate infusion. A single seizure on the second day did not recur following phenobarbital therapy. Hypotonia with scarce spontaneous movements but increased reflexes was first noticed then. Length, weight, and head circumferences were on the 50th centile.

    He was first evaluated at the age …

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