Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.
The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli, hypertonia, camptodactyly, and typical facial features (chubby cheeks, broad nose with anteverted nares, and long philtrum). Most patients have died in the first months of life due to hyperthermia. The syndrome has been described in Italians only; the inheritance pattern is most probably autosomal recessive. Here we describe a 4-year-old boy of Portuguese descent with this entity. Polysomnography during a paroxysmal muscle contraction showed severe obstructive breathing pattern. The overall breathing pattern outside the attacks showed a bizarre mix of disorders of control of breathing with central apneas, hypopnea, obstructive apneas, and long periods of expiratory apneas while the boy was awake. The hyperexcitability disappeared in the course of the first year of life. With time it became clear that he was developmentally delayed. A short review is provided, and the resemblance with the Stuve-Wiedemann syndrome is stressed.
Nannenberg
Eline A
EA
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Bijlmer
Rob
R
Van Geel
Bjorn M
BM
Hennekam
Raoul C M
RC
D000015:Abnormalities, Multiple / Q000473:pathology; D002675:Child, Preschool; D005124:Eye Abnormalities; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014313:Trismus / Q000473:pathology*