Six unrelated children with a unique association of short stature, dysmorphic features, and speech delay are reported from the Harbor/Univ of California at Los Angeles Med Center, the Kennedy Memorial Hospital, Boston, the Beilinson Med Center, the District General Hospital, Stanford, England, and the Cedars-Sinai Med Cntr, Univ of California, LA. Two were French-Canadian, 2 British, 1 Iranian, and 1 Israeli ancestry. All had growth retardation during the first year, delayed bone age, severe speech delay and normal or only mildly retarded intelligence. The strikingly similar facial features consisted of a large long nose, thick lips, broad mouth, deep-set eyes and long eyelashes. Growth hormone stimulation, somatomedin-C levels, thyroid, karyotype, and dermatoglyphics were normal. [1]
COMMENT. This unique syndrome was named after the hospitals where the first 2 patients were recognized (Pelletier and Feingold and Leisti et al. In: Bergsma D. ed. Syndrome identification: Vol 1, No 1 and Vol 2, No. 1. White Plains, NY:Nat Foundation-March of Dimes,1973-74). The differential diagnosis includes the Rubinstein-Taybi syndrome, Russell-Silver syndrome, Williams and Noonan syndromes, and Dubowitz and Seckel syndromes.