Fine-Lubinsky syndrome: Sibling pair suggests possible autosomal recessive inheritance

American Journal of Medical Genetics, Part A

Volumn 143, Issue 21, 2007, Pages 2576-2580

  Holder, Ashley M ^a,b   Graham, Brett H ^a   Lee, Brendan ^a,b   Scott, Daryl A ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c NONE   (United States)

Author keywords

Autosomal recessive; Brachydactyly; Cataracts; CNS anomalies; Craniosynostosis; Developmental delay; Fine Lubinsky; Hearing loss; Mental retardation; Microstomia; Seizures

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRACHYDACTYLY; CALVARIA; CAMPTODACTYLY; CASE REPORT; CATARACT; CENTRAL NERVOUS SYSTEM MALFORMATION; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DECIDUOUS TOOTH; DEVELOPMENTAL DISORDER; FACE PROFILE; FEMALE; FINE LUBINSKY SYNDROME; HEARING LOSS; HUMAN; INFANT; MALE; MICROSTOMIA; PRIORITY JOURNAL; RECURRENCE RISK; SCHOOL CHILD; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, RECESSIVE; GROWTH DISORDERS; HUMANS; INFANT; MALE; SIBLING RELATIONS; SYNDROME;

EID: 35848960372     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31688     Document Type: Article

References (4)

1. Aymé S, Philip N. 1996. Fine-Lubinsky syndrome: A fourth patient with brachycephaly deafness, cataract, microstomia and mental retardation. Clin Dysmorphol 5:55-60.
2. Fine BA, Lubinsky M. 1983. Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations. J Clin Dysmorphol 1:6-9.
3. Preus M, Cooper AR, O'Leary E. 1984. Sensorineural hearing loss, small facial features, submucous cleft palate, and myoclonic seizures. J Clin Dysmorphol 2:30-31.
4. Suthers GK, Earley AE, Huson SM. 1993. A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation. Clin Dysmorphol 2:342-345.