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We report on two unrelated Brazilian boys who have craniofacial and digital anomalies resembling those reported with Teebi hypertelorism syndrome. Additional features such as cleft lip and palate, large uvula, atypical chin and abnormal scapulae were observed.
Congenital double lip is an uncommon developmental abnormality usually affecting the upper lip. We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate, and bilateral third finger clinodactyly. The disorder differs from Ascher syndrome and appears to represent a newly recognized syndrome.
We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description.
We describe a boy with the hypertelorism-hypospadias (BBB) syndrome. His mother and his maternal grandmother showed minor manifestations suggestive of the syndrome. The BBB syndrome is a syndrome of multiple congenital anomalies with mental retardation due a segregating mendelian mutation, either X-linked or autosomal. This paper reviews the literature on the subject and emphasizes the problem of identifying females at high risk of transmitting the condition.
The hypertelorism-hypospadias syndrome has been reported previously in 19 affected male patients. In addition, 21 affected boys in 16 families have been evaluated at our center. Genitourinary anomalies other than hypospadias were observed frequently and included cryptorchidism, vesicoureteral reflux and minor upper urinary tract variations. An increased incidence of other developmental defects involving major organ systems also was observed. Since urologists are among the first physicians to evaluate these children, they should recognize this syndrome as an indication to initiate a thorough multisystem evaluation.
The incidence of malformations of the ear is 1:5000, the incidence of stenosis and atresia is 1:12,000. 30% of the malformations are bilateral. In only 0.3% it is the only malformation. Inherited bilateral atresia of the external auditory canal associated with hypertelorism as the only additional malformation has not yet been described. Basing on a case report the way of interdisciplinary rehabilitation of children affected by bilateral hearing impairment is discussed. Special emphasis is on the discussion of the necessity of radiological examinations for the exclusion of cholesteatoma in an atretic ear which could be found in a 5-year old boy of the described family.
This is a report of cystic fibrosis in association with multiple skeletal defects, including hypertelorism, in a consanguineous family in Sudan.
Between 1971 and 1977, 40 patients with orbital hypertelorism were operated on by the craniofacial team in Toronto. Results have improved as a result of this experience. Tomography in two planes has revealed four types of medial orbital wall deformity. Cephalographs proved inadequate to understand this three-dimensional problem. Mobilization of the orbits and their correct realignment, with removal of the precise amount of interorbital bone, are only preliminary steps in producing good results. Different techniques for reattachment of the medial canthal ligament, correct orientation of the lateral canthus, changes in methods of nasal excision, and the elimination of other facial or eyelid scars are helping to produce more normal looking patients. Simultaneous major intraoral procedures have been the greatest source of complications. Limitation of this surgery to one team has given sufficient experience to enable a diminution in morbidity and a halving in blood loss and time taken for the operation.
Two varieties of frontonasal encephalocele are presented, with variations in the surgical technique necessitated by the different anatomical findings. The encephalocele pushes the nasal skeleton posteriorly and caudally and widens the distance between the medial orbital walls. This causes the long nose and the telecanthus. In this variety of frontonasal encephalocele, hypertelorism is uncommon. There may be absence of dura in relation to the encephalocele. The suggested method of correcting the deformity involves a combined intracranial and extracranial approach. The nasal skeleton is mobilized and placed in its correct position and the telecanthus is corrected. All skull defects are bone grafted. Correcting the deformity at an early age is recommended.
Computerized tomographic scans provide a new means of evaluating the spatial and geometric relationships between the movement of the bony orbit and its soft tissue contents (the globe and extraocular muscles) [1, 12]. Preoperative and postoperative computerized tomographic scans were analyzed in four patients to explore these relationships. Measurement of the changes in distance between the globes correlated most closely with the change in the distance between the lateral orbital walls; resection of medial (inter-orbital) bone provides space into which the globe is translocated. The medial rectus muscle may be bowed across the medial wall osteotomy line, creating a functional shortening of the muscle; this finding may explain the esotropia that is commonly seen after this procedure [2, 3]. These observations should have a direct impact on the understanding and planning of orbital hypertelorism correction.
The subcranial approach for the osteotomy of the skull base and orbital roof in cases with hypertelorism is described. Advancement of the fronto-orbital segments is performed, avoiding the transfrontal procedure, thus making frontal lobe retraction unnecessary. The advantages of this method are pointed out.
The importance of skeletal reduction of the interorbital distance in the treatment of patients with teleorbitism is now well recognized. In spite of this, results of surgery are not always as good as one would hope. For this there are two reasons: (1) reduction of the interorbital distance may be followed by deformities such as canthal drift, enophthalmus, pseudoptosis, and so forth; and (2) hypertelorism is frequently associated with a variety of other malformations that become more conspicuous after reduction of the interorbital distance. In this paper attention is focused on the mechanisms responsible for the appearance of new stigmata, on their prevention, and also on the treatment of the associated malformations.
Orbital hypertelorism may be associated with a variety of deformities affecting several elements of the craniofacial skeleton. Shortness of the central portion of the face represented by a wide, short nose and anterior open bite is frequently combined with the exaggerated interorbital distance. With the mobilization of the two halves of the face it is possible to approximate the orbits, simultaneously elongating the center of the face and normalizing the maxillary alveolar ridge. A technique is described to plan the operation geometrically in order to predict accurately the skeletal correction, the change of the inclination of the eye slant, and the modification of the axis of the teeth.
A male infant with hypertelorism and hypospadias was found to have skeletal changes suggesting metaphyseal dysplasia. Associated findings included congenital nystagmus, hearing impairment, and a complex translocation involving the number 5, 8, and 10 chromosomes. Although some of these abnormalities may be coincidental, they might represent infrequent components of the BBB syndrome. It is just as likely, however, that the syndrome is a new one.
We present a family with six children of first cousin parents, in which three present with microcephaly, hypertelorism, down-slanting palpebral fissures, ptosis, a broad nasal tip, a short webbed neck, mental retardation and seizures. Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCA/MR syndrome is raised.
We describe a male patient with holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism. This rare association has previously been reported in two patients. We present a third case and propose a new association representing a distinguishable entity.
The association of Hypertelorism, Microtia and Cleft lip and palate (HMC syndrome, MIM 239800) is a rare condition of autosomal recessive inheritance. A total of seven cases of HMC syndrome in five families have been hitherto reported. Here, we report two unrelated cases and put emphasis on the possible normal psychomotor development in this syndrome.
We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and Smith-Lemli-Opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases.