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Table 1 Patient phenotypes.

From: Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

  Clinical features
Patient NF2 Cleft palate or craniofacial dysmorphism MR Other described findings
PRS-NF2 Yes Cleft palate Microcephaly Yes Micrognathia, hypertelorism, conductive hearing loss. Corpus callosum and cardiac evaluation were normal.
TC [29] ? * Cleft palate ? ** Micrognathia, hypertelorism, absent corpus callosum, cardiac defects,
pX [28] ? * Cleft palate Yes Mandibular hypoplasia, hypertelorism
p41 [27] Yes Facial dysmorphism Yes Cerebral paresis, pes cavus, peripheral facial paresis, cerebral movement disorder, cataracts
JP [19] Yes - Yes Seizure disorder
p12 [27] Yes - Yes  
999 [30] - Microcephaly Yes Speech delay
4110 [30] - Cleft palate Yes Auricular pits, cataracts, deafness, hypotonia, proptosis, short phalanges
  1. Clinical features of the eight patients described in the text [19, 2730]
  2. * Patients pX and TC were was only 10 months old and 2 years old, respectively, at the time of the report [28, 29]. While their clinical description did not include features of NF2, as would be expected at their age, their deletions did encompass the NF2 gene.
  3. ** Patient TC was described as having walked at age 22 months, but there is insufficient information to determine other measures of developmental and/or intellectual delay.
  4. NF2 neurofibromatosis 2, MR mental retardation.