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[Familial syndrome of microcephaly with oculocutaneous albinism and digital anomalies].
An Esp Pediatr. 1983 Aug; 19(2):128-31.AE

Abstract

Authors make a report concerning a male patient who presents microcephaly, oculocutaneus albinism, hypoplasia of the distal phalanx of the 1st, 3rd and 4th finger of the right hand, 1st, 3rd, 4th and 5th finger of the left hand and agenesia of the distal end of the big toe of the right foot. They think it is a new dysmorphic syndrome. Because of patient's sister presented a similar picture they suggest that it may be an autosomal recessive inheritance pattern.

Authors

Castro-Gago M
No affiliation info available
Pombo M
No affiliation info available
Novo I
No affiliation info available
Tojo R
No affiliation info available
Peña J
No affiliation info available

MeSH

Abnormalities, MultipleAlbinismFemaleFingersHumansInfantIntellectual DisabilityMaleMicrocephalySyndromeToes

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

6660641

Citation

Castro-Gago, M, et al. "[Familial Syndrome of Microcephaly With Oculocutaneous Albinism and Digital Anomalies]." Anales Espanoles De Pediatria, vol. 19, no. 2, 1983, pp. 128-31.
Castro-Gago M, Pombo M, Novo I, et al. [Familial syndrome of microcephaly with oculocutaneous albinism and digital anomalies]. An Esp Pediatr. 1983;19(2):128-31.
Castro-Gago, M., Pombo, M., Novo, I., Tojo, R., & Peña, J. (1983). [Familial syndrome of microcephaly with oculocutaneous albinism and digital anomalies]. Anales Espanoles De Pediatria, 19(2), 128-31.
Castro-Gago M, et al. [Familial Syndrome of Microcephaly With Oculocutaneous Albinism and Digital Anomalies]. An Esp Pediatr. 1983;19(2):128-31. PubMed PMID: 6660641.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Familial syndrome of microcephaly with oculocutaneous albinism and digital anomalies]. AU - Castro-Gago,M, AU - Pombo,M, AU - Novo,I, AU - Tojo,R, AU - Peña,J, PY - 1983/8/1/pubmed PY - 1983/8/1/medline PY - 1983/8/1/entrez SP - 128 EP - 31 JF - Anales espanoles de pediatria JO - An Esp Pediatr VL - 19 IS - 2 N2 - Authors make a report concerning a male patient who presents microcephaly, oculocutaneus albinism, hypoplasia of the distal phalanx of the 1st, 3rd and 4th finger of the right hand, 1st, 3rd, 4th and 5th finger of the left hand and agenesia of the distal end of the big toe of the right foot. They think it is a new dysmorphic syndrome. Because of patient's sister presented a similar picture they suggest that it may be an autosomal recessive inheritance pattern. SN - 0302-4342 UR - https://www.unboundmedicine.com/medline/citation/6660641/[Familial_syndrome_of_microcephaly_with_oculocutaneous_albinism_and_digital_anomalies]_ L2 - http://www.diseaseinfosearch.org/result/5314 DB - PRIME DP - Unbound Medicine ER -