Microphthalmia, Lenz type

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

Kyphosis

Exaggerated anterior convexity of the thoracic vertebral column.


Total: 2

                      


(per page)
PMID (PMCID)
21841432
MALE
Orthopaedic manifestations in a case of Lenz microphthalmia syndrome.
Derman PB, Kulkarni SS, Dormans JP.
J Pediatr Orthop. 2011;31(6):e64-9.
We recommend close monitoring and early surgical intervention with posterior spinal fusion for congenital kyphosis in patients diagnosed with Lenz microphthalmia syndrome.
21841432
MALE
Orthopaedic manifestations in a case of Lenz microphthalmia syndrome.
Derman PB, Kulkarni SS, Dormans JP.
J Pediatr Orthop. 2011;31(6):e64-9.
We present a case of Lenz microphthalmia syndrome with progressive kyphosis, spinal stenosis, and late-onset tibia vara along with many of the typical features of the disorder.