Phenotype #0000016181

Individual ID 00016944
Associated disease BOFS
Phenotype details born 39w pregnancy; 10m-areas of linear aplasia skin neck, bilateral stenosis nasolacrimal canal with dystopia lacrimal points upper lip, pseudocleft upper lip; hair growth neck, parotid branchial fistulas, cysts neck.
Mother 29y-areas linear aplasia skin neck, nasolacrimal canal stenosis, coloboma optic nerve, strabismus, right-sided conductive hearing loss, premature poliosis hair; upper lip cleft operated in childhood; first pregnancy terminated 22w estation medical reasons (multiple congenital malformations (bilateral cleft lip/palate, microphthalmia during ultrasound female foetus confirmed by autopsy, chromosomal aberrations excluded on cytogenetic studies foetal blood lymphocytes)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andrey Marakhonov
Database submission license No license selected
Created by Johan den Dunnen
Date created 2014-06-30 22:15:29 +02:00 (CEST)
Date last edited 2015-10-11 04:20:31 +02:00 (CEST)

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