PURPOSE We report ophthalmic manifestations in four Jacobsen syndrome cases, review the literature, and suggest phenotype-genotype correlations. METHODS Chart review of Ocular Genetics Program patients at The Hospital for Sick Children, Toronto, Canada. RESULTS Four del11qter cases are presented. Hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, na...

The Mohr-Claussen syndrome or oro-facial-digital syndrome type II (OFD-II)] is characterised by tongue lobulation, midline cleft lip, high arched or cleft palate, broad nasal root with wide bifid nasal tip, hypertelorism, micrognathia, brachydactyly, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss and normal intelligence. In view of the different modes of inhe...

We report a 6 year old male with a pattern of malformations and anomalies including intrauterine growth retardation, microcephaly, psychomotor retardation, a pattern of craniofacial anomalies (flat face, hypertelorism, epicanthic folds, strabismus, short nose, low set ears), hypospadias and cryptorchidism, bilateral partial cutaneous syndactyly between fingers 2 to 5 and toes 2 to 4, postaxial ...

A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient's clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just los...

The clinical features and progress of a child with the type VII form of Ehlers-Danlos syndrome due to a deletion in the pro alpha 1(I) of type I procollagen were studied. The child was born with bilateral dislocations of hips and knees and all other joints were markedly hypermobile. Persistent severe joint instability was the major clinical abnormality. She had a depressed nasal bridge with pro...

Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, a...

True median cleft of the upper and lower lip occurs very rarely. Complete or partial facial duplication is an extremely rare malformation. Approximately 26 cases have been reported since 1900, spanning a wide spectrum of clinical severity. Most cases appear to share a number of features, including cleft palate, duplication of the tongue, orbital hypertelorism and macrostomia. An unusual patient...

Introduction ▼ Loeys–Dietz is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2, respectively) (B.L. Loeys ...

A 7-year-old male child with normal neuro and mental development presented with facial malformations. He had hypertelorism, exotropia, broad nasal root, midline clefting of the nose and an operated scar for frontal encephalocele (Fig. 1). The anterior nares were short and narrow. His visual acuity was 6/24 in both eyes and he had bilateral optic nerve atrophy. The rest of the systems were norma...

The main facial features of NS are hypertelorism (an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes), ptosis (a drooping or falling of the upper eyelid) and low-set rotated ears (Pic. 2) situated behind with a thickened helix (the prominent rim of the auricle). The cardiovascular defects most commonly associated with...