Further delineation of the behavioral and neurologic features in Costello syndrome

Hiroshi Kawame, Mihoko Matsui, Kenji Kurosawa, Mari Matsuo, Mitsuo Masuno, Hirofumi Ohashi, Noboru Fueki, Kouki Aoyama, Yukiko Miyatsuka, Kaoru Suzuki, Akira Akatsuka, Yukikatsu Ochiai, Yoshimitsu Fukushima

研究成果: Article査読

41 被引用数 (Scopus)


To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation and severe feeding difficulties leading to failure to thrive from early infancy. All required tube feeding and some needed high-calorie formulas for variable periods. Developmental quotients/IQs in seven children were 50 or less, and three were in the mildly retarded range. Five had seizures. Remarkable manifestations not previously reported were the characteristic behavior in infancy. Although happy and sociable personality was always emphasized in the genetic literature, all children showed significant irritability, including hypersensitivity to sound and tactile stimuli, sleep disturbance, and excess shyness with strangers in infancy. Those symptoms usually disappeared around age 2-4 years. Other clinical signs included cardiac abnormalities (8), musculoskeletal abnormalities (10), ophthalmological manifestations (5), increased urinary vanillymandelic acid (VMA) and homovanillic acid (HVA) (3), rhabdomyosarcoma (1), laryngomalacia (1), and cryptorchidism (1). Only three girls had papillomata. Family histories were negative for Costello syndrome. In conclusion, we confirm the wide spectrum of mental function in patients with Costello syndrome, which ranges from severe to mild. During infancy Costello syndrome showed remarkable irritability with severe feeding problems, which attributes significant difficulties to the parents of affected children.

ジャーナルAmerican Journal of Medical Genetics
118 A
出版ステータスPublished - 2003 4 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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