A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome).
Four siblings of nonconsanguineous parents had congenital anomalies of the anterior segment of the eyes, eyelids, and skeletal systems. Anomalies of the anterior segment included opacities of the corneal stroma, conjunctival telangiectasia, and iridocorneal adhesions. Eyelid abnormalities included blepharoptosis, blepharophimosis, and telecanthus. One sibling with extensive anterior segment anomalies developed glaucoma. All subjects had impaired vertical gaze. Oromandibular anomalies varied from cleft lip and palate to malocclusion with overbite. Additional features included subnormal intelligence, short stature, hearing loss, and clinodactyly. This spectrum of anomalies appeared to have been transmitted as an autosomal recessive syndrome.
De La Paz
M A
MA
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston.
Lewis
R A
RA
Patrinely
J R
JR
Merin
L
L
Greenberg
F
F
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000150:complications* / Q000473:pathology; D005128:Eye Diseases / Q000150:complications; D005143:Eyelids / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006311:Hearing Disorders / Q000150:complications; D006801:Humans; D007360:Intelligence; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014786:Vision Disorders / Q000150:complications