Pediatric Neurology
Volume 33, Issue 4 , Pages 251-254 , October 2005

Clinical Heterogeneity in Familial Congenital Ptosis: Analysis of Fourteen Cases in One Family Over Five Generations

  • Piero Pavone, MD

      Affiliations

    • Department of Pediatrics, University of Catania, Italy
    • Corresponding Author InformationCommunications should be addressed to: Dr. Pavone; Divisione di Clinica Pediatrica; Dipartimento di Pediatrica, Università di Catania; Via S. Sofia, 78 – 95125; Catania, Italy.
    • ,
  • Massimo Barbagallo, MD

      Affiliations

    • Department of Pediatrics, University of Catania, Italy
    • Institute of Neurological Science, The National Research Council of Italy–CNR, Catania, Italy
    • ,
  • Enrico Parano, MD

      Affiliations

    • Institute of Neurological Science, The National Research Council of Italy–CNR, Catania, Italy
    • ,
  • Lorenzo Pavone, MD

      Affiliations

    • Department of Pediatrics, University of Catania, Italy
    • Institute of Neurological Science, The National Research Council of Italy–CNR, Catania, Italy
    • Corresponding Author InformationCommunications should be addressed to: Dr. Pavone; Divisione di Clinica Pediatrica; Dipartimento di Pediatrica, Università di Catania; Via S. Sofia, 78 – 95125; Catania, Italy.
    • ,
  • Nyzar Souayah, MD

      Affiliations

    • Department of Neurology, University of Medicine and Dentistry-New Jersey (UMDNJ) New Jersey Medical School, Newark, New Jersey, USA
    • ,
  • Rosario R. Trifiletti, MD, PhD

      Affiliations

    • Department of Neurology, University of Medicine and Dentistry-New Jersey (UMDNJ) New Jersey Medical School, Newark, New Jersey, USA

Received 14 February 2005 ,Accepted 28 March 2005.

References 

  1. Aberfeld DC . Hereditary ptosis . Birth Defects Orig Artic Ser . 1971;7:63–65
  2. Engle EC , Castro AE , Macy ME , Knoll JH , Beggs AH , et al.   A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1 . Am J Hum Genet . 1997;60:1150–1157
  3. Finsterer J . Ptosis (Causes, presentation, and management) . Aesthetic Plast Surg . 2003;27:193–204
  4. Yilmaz N , Hosal BM , Zilelioglu G . Congenital ptosis and associated congenital malformations . J Aapos . 2004;8:293–295
  5. McMullan TF , Tyers AG . X linked dominant congenital isolated bilateral ptosis (The definition and characterisation of a new condition) . Br J Ophthalmol . 2001;85:70–73
  6. McMullan TF , Collins AR , Tyers AG , Robinson DO , et al.   A novel X-linked dominant condition (X-linked congenital isolated ptosis) . Am J Hum Genet . 2000;66:1455–1460
  7. Rice CD , Weaver RG , Benjamin E , Troost BT , et al.   Unilateral blepharoptosis with synkinetic movements of the eyelids on horizontal gaze . J Pediatr Ophthalmol Strabismus . 1986;23:201–205
  8. Pang MP , Zweifach PH , Goodwin J . Inherited levator-medial rectus synkinesis . Arch Ophthalmol . 1986;104:1489–1491

PII: S0887-8994(05)00254-7

doi: 10.1016/j.pediatrneurol.2005.03.018

Pediatric Neurology
Volume 33, Issue 4 , Pages 251-254 , October 2005

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