The BBB syndrome familial telecanthus
with associated congenital anomalies.
In order to have accurate assessment of telecanthus
, hyper or hypotelorism we need to know standard values of IPD, ICD and OCD.
Canthus (kanthos, [phrase omitted]) is yet another a Greek term for the angle of the eye (angulus oculi or commissura palpebrarum in TA) that is clinically recognizable in terms like epicanthus and telecanthus
To the Editor: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; OMIM#110100) is featured by malformation of the eyelid, including ptosis, epicanthus inversus, telecanthus
, and reduction of the horizontal fissure length with a prevalence of 1 in 50,000.,, If not well treated, BPES could result in strabismus and amblyopia. So far, BPES has been divided into two categories: Type I is characterized by ocular symptoms with premature ovarian failure (POF), while POF is absent in Type II.
The common findings observed in partial duplication of 3p include mental and psychomotor retardation, microcephaly, short stature, short neck, gastrointestinal malformations, congenital heart defects, early postnatal death, hypoplastic genitalia, dysmorphic face such as frontal bossing, temporal indentation, hypertelorism and/or telecanthus
, full cheeks and cleft lip/palate (11,12).
* Facial asymmetry--as discussed already, patients with telecanthus
(widely spaced eyes), or vertically misaligned orbits are likely to have developed heterophoria in order to achieve single vision.
These were mostly avulsion injuries typically associated with a triad of telecanthus
, epiphora and ptosis as also reported by Priel et al.
In addition to congenital glaucoma, the child also exhibited dysmorphic features consisting of macrocephaly, coarse facial features, flat midface, micrognathia, coarse hair, open cranial sutures, telecanthus
, smooth philtrum, low set ears, synophrys, and long eye lashes (see Figure 1).
The systemic abnormalities include [1, 6] the cardiovascular outflow tract, midface hypoplasia, flat nasal root, maxillary and mandibular hypoplasia, hypertelorism and telecanthus
, skeletal anomalies, hearing loss, dental abnormalities, and redundant periumblical skin.
The clinical picture is highly variable, but the major characteristics include hypertelorism, primary telecanthus
, median nasal cleft with a broad nasal root, and a widow's peak hairline [4,10].
(1) Previous reports demonstrated ocular manifestations of trisomy 9 patients as deeply-set eyes, small palpebral fissures, telecanthus
, keratolenticular adhesion and marked iris hypoplasia.
She had frontal bossing, telecanthus
, slightly depressed nasal bridge and prominent nasal tip.