Caruncle abnormalities in the oculo‐auriculo‐vertebral spectrum

Abstract

Goldenhar syndrome (GS) is a congenital disorder believed to be caused by the defective development of the first and second brachial arches and the first brachial clefts during the fourth through eighth weeks of embryologic development. It is characterized by epibulbar dermoids and/or lipodermoids, preauricular tags, pretragal fistulas, hemifacial microsomia, and vertebral anomalies. Other ocular and nonocular symptoms have also been described. To our knowledge there are only three previous reports of abnormal caruncles in GS. We have reviewed our experience with a consecutive series of seven GS patients with caruncular malformations. Caruncular abnormalities included dysplatic and/or bilobed caruncles (two cases), ectopic caruncles (three bilateral cases and one unilateral case), and ectopic plus dysplastic caruncles (one case). Our experience suggests that the incidence of caruncular malformations in GS anomalies is higher than previously reported. This may be clinically important in differentiating GS from other first- and second-arch syndromes. Additionally, linking abnormalities in the first and second months of gestation that cause the typical stigmata of GS with malformation of the caruncles, which normally develop in the third month of gestation, could provide clues to the pathogenesis of GS.

Lesions of the caruncle: a description of 42 cases and a review of the literature

“…17 A supernumerary punctum connected to a supernumerary canaliculus and ending in a blind supernumerary sac is extremely rare. 18 Caruncular abnormalities, including bilobed caruncles and ectopic caruncles, have been described in patients with Goldenhar syndrome, 19 which is a congenital disorder believed to be caused by the defective development of the first and second brachial arches and the first brachial cleft during the fourth through eighth weeks of embryologic development.…”

Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS)

“…The minimal symptoms for the diagnosis of OAVS include at least two of these features: hemifacial microsomia, otic hypoplasia, vertebral abnormalities, epibulbar dermoid and/or upper eye lid coloboma (the two last symptoms typical of Goldenhar syndrome 8 ). Other features may be associated: palpebral abnormalities or ptosis, hypoplasia of internal or middle ear canal 9,10 , macrostomia, platybasia 11 , plagiocephaly, cheiloschisis, cheilognathopalatoschisis 12 , scoliosis 13 , limb, cardiac, urogenital malformations 14 , clinodactyly, flexion of fifth fingers, abnormalities of thumb, velo-pharyngeal insufficiency 15 , short stature. OAVS includes Goldenhar syndrome 16 , characterized by the association of hemifacial microsomia, microtia, skeletal abnormalities, and dermoid.…”

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder

“…In addition, both had plagiocephaly and torticollis and the boy presented with cleft lip, heminostril, and tracheoesophageal fistula 36. Later on, studies revealed a variety of symptoms in addition to the general characteristics of the OAV such as dysplastic ectopic, or bilobed caruncles, nasal sinus, nasal-ocular cleft,37 ocular colobomas,38 facial nerve paralysis and mental retardation,39 speech impairment, and difficulties in feeding/eating 40. Growth hormone deficiency was also reported in a patient with OAV but no association was proved 41…”