Other facial characteristics are hypertelorism
, rounded palpebral fissures, esotropia, wide and flattened ear lobes, and downturned corners of the mouth (11).
There was mild hypertelorism
and central cleft palate (Photo annexure 1) mild talipes equinovarus deformity in left foot and marked talipes equinovarus deformity in right foot (CTEV).
The infant exhibited the following manifestations of NBCCS: broad nasal bridge, bifid ribs, palmar and plantar pits, hypertelorism
, iris coloboma, macrocephaly, and cleft lip and palate.
Jim Thorpe, PA 18229 (717) 325-3302 www.geocities:com/hotsprings/spa/2 ??email@example.com OPTIC NERVE HYPOPLASIA See: Septo-Optic Dysplasia ORBITAL HYPERTELORISM
See: Craniofacial Disorders ORGANIC ACIDEMIA See: Acidemia, Organic ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY See: Urea Cycle Disorders OROFACIODIGITAL SYNDROME TYPE I See: Ectodermal Dysplasias OSLER-WEBER-RENDU SYNDROME See: Hemorrhagic Telangiectasis, Hereditary OSTEOGENESIS IMPERFECTA See also: Growth Disorders Canadian Osteogenesis Imperfecta Society 128 Thornhill Crescent Chatham, ON CAN N7L 4M3 (519) 436-0025 (519) 351-4043 (fax) ??firstname.lastname@example.org 1,2,3,6 Osteogenesis Imperfecta Foundation 804 West Diamond Ave., Ste.
The main clinical characteristics of the syndrome consist of short stature, cardiovascular abnormalities (pulmonary valve stenosis, hypertrophic cardiomyopathy), cryptorchidism, and facial dysmorphology (hypertelorism
, ptosis, low-set and posteriorly rotated ears, webbed neck) (3,4,5).
OBSERVATIONS: The Child was first born to nonconsanguinous parents, (mother age 25 Years and father age 28 Years) brought for Fever, Cold, Cough of one day duration and 1 episode of seizure (simple febrile seizures) following upper respiratory tract infection and found to have mental retardation, Brachycephaly, Craniosynostosis, hypertelorism
, midfacial hypoplasia, shallow orbits, mitten hands, syndactyly of both feet and palms (osseous and cutaneous)
A large mass can lead to hypertelorism
, broadening of the nasal bridge, airway obstruction, and epiphora.
The phenotypic features include wide-set bulging eyes and underdeveloped upper jaw, craniosynostosis, midface hypoplasia, hypertelorism
, proptosis, posteriorly rotated ears, and in some cases, hearing loss.
Four main characteristics that suggest the diagnosis of LDS include Arterial tortuosity, most often occurring in the vessels of the neck and observed on imaging techniques, Hypertelorism
, Bifid or broad uvula, Aneurysms most often seen in the aortic root but can be seen in other arteries throughout the body.
He also exhibited mandibular enlargement, mild frontal bossing, and hypertelorism
. He was afebrile and in no distress.
Dysmorphic facial features included midfacial hypoplasia, prominent nasolabial folds, low-set and posteriorly rotated ears, hypertelorism
, downslanted palpebral fissures, and low nasal root (Figure 1).
(20) Sampath S, Keats B J, Lacassie Y, in their study of "A newly recognized autosomal dominant disorder involving hypertelorism
, pre auricular sinus, punctal pits, and deafness mapping to chromosome14q31, described novel autosomal dominant disorder with variable phenotypic expression in a three-generation family; the major features include hypertelorism
, preauricular sinus, deafness, and punctal pits with lacrimal-duct obstruction.