++
Very rare familial bipolar syndrome characterized by
short stature resulting from growth hormone deficiency. Affected individuals
have microcephaly, cleft lip/palate, and deformities of the thumbs and
limbs.
++
Oro-Cranio-Digital Syndrome; Cleft Lip/Palate with
Abnormal Thumbs and Microcephaly Syndrome.
++
Very rare genetic disorder with
probable autosomal inheritance.
++
Patients have short stature and mental
retardation. Syndrome involves head (cleft lip/palate, microcephaly,
hypertelorism, broad nose, bowed and upward-slanting eyebrows, and ptosis),
skeleton (hypoplastic stiff and distally placed thumbs, brachydactyly, limited elbow
extension, anomalous carpal bones, deformity of radial heads, toe anomalies,
and vertebral and rib anomalies). Other features include horseshoe kidneys,
micropenis, and anterior anal displacement. Laboratory investigations show
growth hormone deficiency.
++
Ventilation with a face mask, direct
laryngoscopy and tracheal intubation can be difficult because of facial
malformations. The airway must be preoperatively assessed. Maintain spontaneous
ventilation until the trachea is intubated and lung ventilated. Avoid neck
extension. Careful intraoperative positioning is needed. Venous access on superior
limb can be difficult.
++
Fetal Aminopterin Syndrome: Teratogenic syndrome caused by
maternal intake of aminopterin or methotrexate. Characterized by growth
failure, craniofacial deformities, hydrocephalus, mental retardation, and
skeletal defects.
++
Malpuech Syndrome: Malformative syndrome characterized by
hypertelorism, facial clefting, urogenital abnormalities, severe growth
failure, and mental retardation.
Juberg RC, Hayward JR: A new familial syndrome of oral, cranial, and
digital anomalies.
J Pediatr 74:755, 1969.
[PubMed: 5778829]
Silengo M, Tornetta L: Juberg-Hayward syndrome: Report of a case with cleft
palate, distally placed thumbs and vertebral anomalies.
Clin Dysmorphol 9:127, 2000.
[PubMed: 10826626]
Verloes A, Le Merrer M, Davin JC, et al: The orocraniodigital syndrome of
Juberg and Hayward.
J Med Genet 29:262, 1992.
[PubMed: 1583649]