[Familial syndrome of microcephaly with oculocutaneous albinism and digital anomalies].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000417:Albinism / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities
Síndrome familiar de microcefalia con albinismo oculocutáneo y anomalías digitales.