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Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?
Am J Med Genet. 1996 Apr 24; 62(4):365-71.AJ

Abstract

This work describes an autosomal recessive syndrome observed over the past 25 years in 17 newborn babies (8 males, 9 females), from 12 different families in Southern Sardinia. This disorder is evident at birth and is characterized by marked muscular contraction of the facial muscles in response to tactile stimuli or during crying, with trismus and abundant salivation simulating a tetanic spasm. The contractions slowly disappear as the infant calms. There is also neck muscle hypertonia with a tendency to opisthotonus. All patients present facial anomalies such as large face, chubby cheeks, broad nose with anteverted nostrils, and long philtrum. The hands show bilateral camptodactyly. The clinical course in all patients was characterized by marked feeding difficulties and appearance of variable fever at about 38 degrees C, with peaks of irregular hyperthermia of over 42 degrees C, with onset ranging from birth to a few weeks. In some patients these symptoms were accompanied by generalized seizures. Death occurred after a period of a few weeks to some months and coincided with fever above 42 degrees C. Laboratory investigations performed in all of these cases did not give any useful pathogenetic indications. Only patients 10 and 16 are still alive today. Patient 10 is now 14 years old. She presents slow regression of the dystonic symptomatology, while dysthermia and mild psychomotor delay persist.

Authors+Show Affiliations

Centro per lo Studio delle Malformazioni Congenite, Università di Cagliari, Italy.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8723066

Citation

Crisponi, G. "Autosomal Recessive Disorder With Muscle Contractions Resembling Neonatal Tetanus, Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death: a New Syndrome?" American Journal of Medical Genetics, vol. 62, no. 4, 1996, pp. 365-71.
Crisponi G. Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? Am J Med Genet. 1996;62(4):365-71.
Crisponi, G. (1996). Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? American Journal of Medical Genetics, 62(4), 365-71.
Crisponi G. Autosomal Recessive Disorder With Muscle Contractions Resembling Neonatal Tetanus, Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death: a New Syndrome. Am J Med Genet. 1996 Apr 24;62(4):365-71. PubMed PMID: 8723066.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? A1 - Crisponi,G, PY - 1996/4/24/pubmed PY - 2000/6/20/medline PY - 1996/4/24/entrez SP - 365 EP - 71 JF - American journal of medical genetics JO - Am J Med Genet VL - 62 IS - 4 N2 - This work describes an autosomal recessive syndrome observed over the past 25 years in 17 newborn babies (8 males, 9 females), from 12 different families in Southern Sardinia. This disorder is evident at birth and is characterized by marked muscular contraction of the facial muscles in response to tactile stimuli or during crying, with trismus and abundant salivation simulating a tetanic spasm. The contractions slowly disappear as the infant calms. There is also neck muscle hypertonia with a tendency to opisthotonus. All patients present facial anomalies such as large face, chubby cheeks, broad nose with anteverted nostrils, and long philtrum. The hands show bilateral camptodactyly. The clinical course in all patients was characterized by marked feeding difficulties and appearance of variable fever at about 38 degrees C, with peaks of irregular hyperthermia of over 42 degrees C, with onset ranging from birth to a few weeks. In some patients these symptoms were accompanied by generalized seizures. Death occurred after a period of a few weeks to some months and coincided with fever above 42 degrees C. Laboratory investigations performed in all of these cases did not give any useful pathogenetic indications. Only patients 10 and 16 are still alive today. Patient 10 is now 14 years old. She presents slow regression of the dystonic symptomatology, while dysthermia and mild psychomotor delay persist. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8723066/Autosomal_recessive_disorder_with_muscle_contractions_resembling_neonatal_tetanus_characteristic_face_camptodactyly_hyperthermia_and_sudden_death:_a_new_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=62&issue=4&spage=365 DB - PRIME DP - Unbound Medicine ER -