A rare multiple congenital anomalies syndrome with mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal an

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syndrome de Van Maldergem

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Ablepharon Absence or agenesis of:cilia | eyelid | Accessory:eye muscle | Blepharophimosis, congenital Coloboma of eyelid Congenital malformation of eyelid NOS

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Ablépharie Absence ou agénésie de:cils | paupière | Blépharophimosis congénital Colobome de la paupière Malformation congénitale de la paupière SAI Muscle oculaire surnuméraire Paupière surnuméraire

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Ankyloblepharon Blepharophimosis Lid retraction

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Ankyloblépharon Atrophie de la paupière Blépharophimosis

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D'autres ont cherché : accessory eye muscle ankyloblepharon blepharophimosis lid retraction blepharophimosis eyelid

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Date index: 2022-03-09