Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis

Meel, Rachna; Ayyadurai, Nikitha; Agrawal, Sahil; Das, Deepsekhar

doi:10.1136/bcr-2020-236373

BMJ Case Rep

2020

DOI: 10.1136/bcr-2020-236373

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Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis

Rachna Meel

Nikitha Ayyadurai

Sahil Agrawal

et al.

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2021

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Recurrent Ptosis in a Case of Dubowitz Syndrome

Agrawal¹,

Kulshrestha²,

Das³

et al. 2021

Cureus

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Dubowitz syndrome is a relatively rare genetic and developmental disorder. An eight-year-old female presented with a complaint of drooping in her left eye since birth. She had undergone ptosis surgery two years back. There was a history of delayed speech and delayed dentition. She was of moderate built appropriate to her age. There was microcephaly, sparse hair, flat bridge of the nose with a prominent rounded tip, short stature, low-set ears, and micrognathia with subsequent protrusion of upper two incisors. Based on the clinical features a diagnosis of Dubowitz syndrome with left recurrent ptosis was made. She underwent frontalis sling surgery and had a satisfactory outcome.

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Recurrent Ptosis in a Case of Dubowitz Syndrome

Agrawal¹,

Kulshrestha²,

Das³

et al. 2021

Cureus

Self Cite

View full text Add to dashboard Cite

show abstract

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Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis

Cited by 1 publication

References 5 publications

Recurrent Ptosis in a Case of Dubowitz Syndrome

Recurrent Ptosis in a Case of Dubowitz Syndrome

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