Congenital ptosis

Congenital ptosis is characterized by superior eyelid drop present at birth.

Ptosis

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).


Total: 20

                       


(per page)
PMID (PMCID)
30200099
(6133583)
 MIXED_SAMPLE Child
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.
Pavone P, Cho SY, Pratico AD, Falsaperla R, Ruggieri M, Jin DK.
Medicine (Baltimore). 2018;97(36):e12124.
Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.
30200099
(6133583)
 MIXED_SAMPLE Child
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.
Pavone P, Cho SY, Pratico AD, Falsaperla R, Ruggieri M, Jin DK.
Medicine (Baltimore). 2018;97(36):e12124.
Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.
30200099
(6133583)
 MIXED_SAMPLE Child
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.
Pavone P, Cho SY, Pratico AD, Falsaperla R, Ruggieri M, Jin DK.
Medicine (Baltimore). 2018;97(36):e12124.
Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.
30200099
(6133583)
 MIXED_SAMPLE Child
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.
Pavone P, Cho SY, Pratico AD, Falsaperla R, Ruggieri M, Jin DK.
Medicine (Baltimore). 2018;97(36):e12124.
Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.
30200099
(6133583)
 MIXED_SAMPLE Child
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.
Pavone P, Cho SY, Pratico AD, Falsaperla R, Ruggieri M, Jin DK.
Medicine (Baltimore). 2018;97(36):e12124.
Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.
30200099
(6133583)
 MIXED_SAMPLE Child
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.
Pavone P, Cho SY, Pratico AD, Falsaperla R, Ruggieri M, Jin DK.
Medicine (Baltimore). 2018;97(36):e12124.
Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.
26691049
 MIXED_SAMPLE Child
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.
AlBakri A, Karaoui M, Alkuraya FS, Khan AO.
J AAPOS. 2015;19(6):577-9.
We report 2 siblings with congenital ptosis and scoliosis who were considered for ptosis surgery but were found to harbor underlying recessive RYR1 mutations.
16527769
 MALE Child
Clinical controversy: congenital unilateral and jaw-winking ptosis.
O'donnell B, Codere F, Dortzbach R, Lucarelli M, Kersten R, Rosser P.
Orbit. 2006;25(1):11-7.
Unilateral severe congenital ptosis and jaw-winking ptosis raise additional questions of which surgical procedure and whether unilateral or bilateral surgery should be performed.
16523800
 FEMALE Infant, Newborn
[Diagnosis image (262). A newborn baby with unilatreral ptosis].
Nout E, Lincke CR.
Ned Tijdschr Geneeskd. 2006;150(7):373.
A newborn girl was seen with one eye closed, which she opened synchronous with suction; this was due to a congenital ptosis, so-called Marcus Gunn jaw-winking ptosis.
11384591
 OTHER Infant
Alternating ptosis after bilateral frontalis muscle suspension for congenital ptosis.
Egbert JE, Lucchese NJ, Dortzbach RK.
Am J Ophthalmol. 2001;131(6):815-6.
Alternating ptosis after bilateral frontalis muscle suspension for congenital ptosis.
10511215
 MIXED_SAMPLE Child
Transconjunctival frontalis suspension: a clinical evaluation.
Loff HJ, Wobig JL, Dailey RA.
Ophthalmic Plast Reconstr Surg. 1999;15(5):349-54.
Four patients (eight eyelids) had blepharophimosis syndrome, ten patients (27 eyelids) had congenital ptosis, seven patients (14 eyelids) had myogenic ptosis, and one patient (one eyelid) had neurogenic ptosis.
10511215
 MIXED_SAMPLE Child
Transconjunctival frontalis suspension: a clinical evaluation.
Loff HJ, Wobig JL, Dailey RA.
Ophthalmic Plast Reconstr Surg. 1999;15(5):349-54.
Four patients (eight eyelids) had blepharophimosis syndrome, ten patients (27 eyelids) had congenital ptosis, seven patients (14 eyelids) had myogenic ptosis, and one patient (one eyelid) had neurogenic ptosis.
1818234
 MALE Child
Unilateral congenital ptosis due to plexiform neurofibroma, causing refraction error and secondary amblyopia.
Avisar R, Leshem Y, Savir H.
Metab Pediatr Syst Ophthalmol (1985). 1991;14(3-4):62-3.
An 8-year-old boy with congenital ptosis of the right upper eyelid due to plexiform neurofibroma was operated on because of a rapidly worsening of his ptosis.
3805595
 MIXED_SAMPLE Child
[Suspension of the eyelid to the frontal muscle in the surgery of ptosis. Technic and indications].
Morax S, Benia L.
J Fr Ophtalmol. 1986;9(6-7):461-70.
The choice of this procedure was performed sometimes at the first stage for severe ptosis with poor levator function: isolated congenital ptosis, blepharophimosis syndrome, Marcus Gunn Jaw-Winking ptosis, ptosis with severe myopathy, some traumatic ptosis.
3805595
 MIXED_SAMPLE Child
[Suspension of the eyelid to the frontal muscle in the surgery of ptosis. Technic and indications].
Morax S, Benia L.
J Fr Ophtalmol. 1986;9(6-7):461-70.
The choice of this procedure was performed sometimes at the first stage for severe ptosis with poor levator function: isolated congenital ptosis, blepharophimosis syndrome, Marcus Gunn Jaw-Winking ptosis, ptosis with severe myopathy, some traumatic ptosis.
3805595
 MIXED_SAMPLE Child
[Suspension of the eyelid to the frontal muscle in the surgery of ptosis. Technic and indications].
Morax S, Benia L.
J Fr Ophtalmol. 1986;9(6-7):461-70.
The choice of this procedure was performed sometimes at the first stage for severe ptosis with poor levator function: isolated congenital ptosis, blepharophimosis syndrome, Marcus Gunn Jaw-Winking ptosis, ptosis with severe myopathy, some traumatic ptosis.
3805595
 MIXED_SAMPLE Child
[Suspension of the eyelid to the frontal muscle in the surgery of ptosis. Technic and indications].
Morax S, Benia L.
J Fr Ophtalmol. 1986;9(6-7):461-70.
The choice of this procedure was performed sometimes at the first stage for severe ptosis with poor levator function: isolated congenital ptosis, blepharophimosis syndrome, Marcus Gunn Jaw-Winking ptosis, ptosis with severe myopathy, some traumatic ptosis.
4011780
 MIXED_SAMPLE Adult
Acquired ptosis: a reexamination of etiology and treatment.
Pearl RM.
Plast Reconstr Surg. 1985;76(1):56-64.
As opposed to congenital ptosis, where levator resection is required to compensate for muscle weakness, acquired ptosis can be consistently treated with simple levator reattachment.
542251
 MIXED_SAMPLE Infant, Newborn
Aponeurotic defects in congenital ptosis.
Anderson RL, Gordy DD.
Ophthalmology. 1979;86(8):1493-500.
Levator aponeurosis disinsertion is an accepted etiologic factor in some acquired ptosis cases, but it has not previously been reported as a cause of congenital ptosis.
542251
 MIXED_SAMPLE Infant, Newborn
Aponeurotic defects in congenital ptosis.
Anderson RL, Gordy DD.
Ophthalmology. 1979;86(8):1493-500.
We feel the aponeurotic approach to ptosis correction is applicable to cases of congenital ptosis with at least 5 mm of function.