English
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
Journal of Medical Genetics 1994-May

A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.

Only registered users can translate articles
Log In/Sign up
The link is saved to the clipboard
Q H Qazi
D Markouizos
C Rao
T Sheikh
E Beller
R Kula

Keywords

Abstract

Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. Birth weight, postnatal physical growth, and head size were average. Family and gestational histories and laboratory evaluations were normal. The combination of features observed in the three boys appears to be distinct and to represent a new syndrome.

Join our facebook page

The most complete medicinal herbs database backed by science

  • Works in 55 languages
  • Herbal cures backed by science
  • Herbs recognition by image
  • Interactive GPS map - tag herbs on location (coming soon)
  • Read scientific publications related to your search
  • Search medicinal herbs by their effects
  • Organize your interests and stay up do date with the news research, clinical trials and patents

Type a symptom or a disease and read about herbs that might help, type a herb and see diseases and symptoms it is used against.
*All information is based on published scientific research

Google Play badgeApp Store badge