Disease #00441 (BOFS (branchiooculofacial syndrome (BOFS)), OMIM:113620)

Official abbreviation BOFS
Name branchiooculofacial syndrome (BOFS)
OMIM ID 113620
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene TFAP2A
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-30 22:13:32 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00016944 - PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 2-generation family, affected mother/child F no Russian Federation Russian - - - - BOFS 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) TFAP2A TFAP2A 1 2 Andrey Marakhonov
00016950 - PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 probably mosaicism in mother with light signs of BOFS (parotid fistula) M no Russian Federation Russian - - - - BOFS born 39w pregnancy, birth weight 2250g, birth height 49cm; 7m-hospitalisedfor surgical treatment bilateral lip/palate cleft; dolichocephaly, elongated face, ellipsoidal eye shape, areas of bilateral linear aplasia skin neck, strabismus; right nasolacrimal canal stenosis, retinal coloboma; otoscopy shows dilatation external auditory canal and right internal auditory canal, hyperplasia auditory ossicles, bilateral conductive hearing loss; normal psychomotor/intellectual developmentnormal; no congenital heart defects or abnormalities urinary system (ultrasound investigation, echocardiography) TFAP2A TFAP2A 1 1 Andrey Marakhonov
00016951 - PubMed: Meshcheryakova 2015, Journal: Meshcheryakova 2015 2-generation family, unaffected parents not carrying the variant F no Russian Federation Russian - - - - BOFS born 38w pregnancy, birth weight 3100g; facial dysmorphism: bilateral upper lip cleft, dimples upper lip, low-set ears, parotid fistula, microgenia, branchial cysts neck, hair growth neck, ellipsoidal eye shape; first months frequent apnoeic spells and complicating respiratory failure resulting in superimposed tracheostomy tube; 8y-coloboma optic nerve, CT scan temporal bone right external auditory canal atresia TFAP2A TFAP2A 1 1 Andrey Marakhonov
00029025 - PubMed: Milunsky 2008 - F - United States - - - - - BOFS see paper; .. TFAP2A TFAP2A 1 1 Johan den Dunnen
00029026 - PubMed: Milunsky 2008 - M - United States - - - - - BOFS see paper; .. TFAP2A TFAP2A 1 1 Johan den Dunnen
00029027 - PubMed: Milunsky 2008 - M - United States - - - - - BOFS see paper; .. TFAP2A TFAP2A 1 1 Johan den Dunnen
00029028 - PubMed: Milunsky 2008 - F - United States - - - - - BOFS seep paper; .. TFAP2A TFAP2A 1 1 Johan den Dunnen
00029029 - PubMed: Milunsky 2008 2-generation family, affected mother/son - - United States - - - - - BOFS see paper; ... ; neither mother/son had overt cleft lip and palate; son has abnormally short philtrum and bilateral notched vermilion-mucosa border TFAP2A TFAP2A 2 2 Johan den Dunnen
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