Abstract
We report on a patient with Frank–Ter Haar syndrome that is associated with high intraocular pressures. A 21-day-old male patient was referred to our clinic for surgical treatment of congenital glaucoma. On ophthalmic examination, he had buphthalmos, mild corneal edema and high IOP readings in both eyes. The patient underwent uneventful trabeculotomy surgery, bilaterally. Marked bilateral anterior iris insertion was noted during the surgery. Childhood glaucoma may be associated with Frank–Ter Haar syndrome.
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References
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RCM (2004) Further delineation of Frank–ter Haar syndrome. Am J Med Genet 131:127–133
Frank Y, Ziprkowski M, Romano A, Stein R, Katznelson MB, Cohen B, Goodman RM (1973) Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome? J Genet Hum 21:67–72
Ter Haar B, Hamel B, Hendriks J, de Jager J (1982) Melnick–Needles syndrome: indication for an autosomal recessive form. Am J Med Genet 13:469–477
Hamel BC, Draaisma JMT, Pinckers AJ, Boetes C, Hoppe RL, Roppers HH, Brunner HG (1995) Autosomal recessive Melnick-Needles syndrome or Ter-Haar syndrome? report of a patient and reappraisal of an earlier report. Am J Med Genet 56:312–316
Gorlin RJ, Knier J (1982) X-linked or autosomal dominant lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? a reappraisal. Am J Med Genet 13:465–467
Horton WA, Hecht JT (2007) The skeletal dysplasias. In: Behrman RE, Kliegman RM, Jenson HB (eds) Nelson textbook of pediatrics, 18th edn. Elsevier, Philadelphia, pp 2869–2887
Femitha P, Joy R, Gane BD, Adhisivam B, Bhat BV (2012) Frank–Ter Haar Syndrome in a newborn. Indian J Pediatr 79:1091–1093
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC (2004) Further delineation of Frank–ter Haar syndrome. Am J Med Genet 131:127–133
Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan AO, Ozkul Y (2009) Frank–ter Haar syndrome with unusual clinical features. Eur J Med Genet 52:247–249
Ter Haar B, Hamel B, Hendriks J, de Jager J (1982) Melnick–Needles syndrome: indication for an autosomal recessive form. Am J Med Genet 13:469–477
Aktas Z, Yuksel N, Kula S, Akman A, Hasanreisoğlu B (2013) Childhood glaucoma as an ophthalmic manifestation of seckel syndrome. J Glaucoma 22:e3–e4
Verbraak FD, Pogány K, Pilon JW, Mooy CM, de France HF, Hennekam RC, Bleeker-Wagemakers EM (1992) Congennital glaucoma in a child with partial 1q duplicationa and 9p deletion. Ophthalmic Paediatr Genet 13:165–170
AlKaissi A, Hammou A, Ghachem MB, Nacib MN, Chehida FB, Karoui H, Baraitser M (2003) Siblings with glaucoma, mental retardation and short stature. Clin Dysmorphol 12:191–194
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Aktas, Z., Karaca, E.E., Dogan, N. et al. Congenital glaucoma as an ophthalmic manifestation of Frank–Ter Haar syndrome. Int Ophthalmol 34, 351–354 (2014). https://doi.org/10.1007/s10792-013-9796-5
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DOI: https://doi.org/10.1007/s10792-013-9796-5