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Editor who approved publication: Dr Scott Fraser. We hereby report a case of this syndrome found in three generations of the same family — father, daughter, and grand-daughter — who presented with a short stature and facial dysmorphic features, nystagmus, cataract, and bilateral microphthalmia. The discussion is based on the clinical and genetic aspects, and the challenges in management of this oculo-mandibulo-facial syndrome. The first description of this syndrome was done in by Aubry 6 and was completed by Hallermann 7 in and Streiff 8 in Hallermann and Streiff distinguished this syndrome from mandibulo-facial dysostosis described by Franceschetti and Zwahlen in As the patients are unable to read and write, the publication of the case details were explained in full to the patients and next-of-kin, and informed consent was received by two patients, and the next-of-kin on behalf of the third patient, who has since passed away.
The patient aged 77, a farmer, came for a consultation for the management of reported congenital bilateral cataract. It was his first ophthalmologic consultation and the patient could not provide information on his birthweight or the neonatal period and there was no consanguinity between his parents. We found the same clinical features in his daughter and grand-daughter.
He could see hand movements with the right eye and could count fingers at 2m with the left eye. In addition, the ophthalmologic exam showed strabismus and nystagmus with a palpebral fissure of 2. Slit-lamp examination showed, apart from the above mentioned abnormalities, a gerontoxon, a clear cornea, and the anterior chamber was calm and deep; the photomotor reflex was present and normal, with an obliterating and bilateral mature cortical and nuclear cataract Figure 2.
Intraocular pressure could not be measured but seemed to be increased on digital palpation. Fundoscopy was not possible. Figure 1 Case 1: bird-like face with strabismus and nystagmus. General examination found a height of 1. We also noticed microdontia, macrodontia, and oligodontia on Xray Figure 5. Figure 5 Case 1: narrowness of the maxilla with tooth agenesis, microdontia of tooth 12, loss of teeth 31 and 32, macrodontia of tooth 33, and apical gap of tooth 36, as shown on Xray. The second patient, daughter of the previous patient, aged 39 years, a farmer as well, had similar complaints.
It was her first ever ophthalmologic consultation and there was no consanguinity link between her parents; pregnancy and delivery context was not documented for it was done traditionally; the mother of the patient had leprosy but died without any visual abnormality; history of chronic sinusitis treated with traditional medication and leprosy treated medically.
The siblings of the patient had no visual abnormality. There was a bilateral nuclear cataract Figure 7 rendering fundoscopy impossible and ocular tension was normal with digital palpation. The third patient aged 19, was brought by her mother during the large scale screening campaign for management of a congenital bilateral cataract. There was no history of consanguinity between her parents either. The patient had a low birthweight according to the mother, but this information was not documented, since delivery was traditional.
The patient had no chronic health conditions. There was a bilateral nuclear and cortical dense cataract Figure 12 rendering fundoscopy inaccessible and intraocular ocular pressure was normal at digital palpation. Globally, the patient presented fewer signs than her grand-father or mother. Cardiopulmonary exam was normal. Ocular ultrasound showed an apparently normal retina non-detached with axial length of Figure 14 Case 3: arched palate with a slight palatine depression.
Figure 15 Case 3: narrowness of the maxilla with respect to the mandible as shown on Xray. She was the mother of a 4-year old girl who is normal Figure Koliopoulos and Palimeris described a family while observing five cases in three generations with a father-to-son transmission.
Father-to-daughter transmission of the phenotype, the presence of normal individuals amongst the siblings of the mother and the daughter and the disappearance of the phenotype at the fourth generation great grand-daughter in our case, can suggest an autosomal recessive transmission or dominant variable expressivity, but the sudden appearance of the syndrome in the first generation father does not clear the hypothesis of a new mutation which could have occurred during the embryo formation of the father.
We could not proceed with further research by conducting genetic investigations since this was not accessible. According to the literature, the potential causes of this syndrome are: an asymmetric anomaly of the second brachial arch which occurs during the fifth and sixth weeks of gestation, maternal viral infections, exposure to toxins, and paternal age.
Inconstant ophthalmologic signs are iris atrophy, blue sclera, angle malformation, peripheral anterior synechia, posterior synechia, papilla pallor, and glaucoma. Psychomotor development is usually normal, but exceptions do exist 11 , 25 like in our case of the father, who presented a slight mental retardation. Complications, like respiratory difficulties and cardiac failure, were not found in this family.
Seven diagnostic criteria exist for the oculo-mandibulo-facial syndrome, 10 , 11 , 13 illustrated in Table 1. In our family, small stature being relative, we found six positive criteria concerning the father 1, 2, 4, 5, 6, 7 and the daughter 1, 3, 4, 5, 6, 7 and four criteria for the grand-daughter 1, 5, 6, 7.
Table 2 represents all the characteristics of the syndrome found in our three patients with their frequency according to the literature. Meanwhile, the signs of the syndrome which are not part of this criteria are also grouped on the same table. The dental examination is important since there are facial and craniofacial malformations.
Enamel hypoplasia may also be frequent, causing dental cavities; there may also be an abnormal dental alignment in the majority of cases 27 or some ghost teeth. Our three cases had a great variability of signs like several cases described in the literature.
Note: Features as stated in previous studies. Differential diagnoses are oculo-dento-digital dysplasia also called oculo-dento-bone dysplasia or Meyer-Schwickerath syndrome or Hallermann—Streiff pseudo-progeroid syndrome PHS , 13 mandibulo-facial dysostosis Franceschetti syndrome or its less severe form, Treacher Collins syndrome , cleidocranial dysostosis or dysplasia, progeria and other progeroid syndromes. In Seckel syndrome, we can see prominent eyes without cataract, malformed ears with a normal temporo-mandibular joint and skin atrophy with absence of hypotrichosis.
In mandibulo-facial dysostosis, lower eyelid coloboma is common with ear abnormalities and in mandibulo-acral dysplasia, we note shortened distal phalanx acro-osteolysis. Oculo-facio-cardio-dental syndrome is a syndrome of multiple congenital abnormalities characterized by dental radiculomegaly, congenital cataract, facial dysmorphism and a congenital cardiac abnormality.
Since then, a good number of surgeons adopted that technique which gave an adequate pseudophakic optic correction. This technique gives rise to a reduced number of spherical aberrations and gives a better image when the optical centers of the implants are well aligned only when we use an implant of great power.
Nevertheless, complications like inter-lenticular opacification by Elschnig pearls are possible, or a membrane formation leading to a reduction of the best corrected visual acuity; this can occur three years after implantation. A potential complication can be endotracheal intubation which may cause difficulty during anesthesia.
The risk of abnormally folded retina discovery and a peroperative retinal detachment should be considered during surgery according to Marc et al. Its diagnosis is not easy and the circumstances of diagnosis showcase the value of outreach programs and resource-limited community strategies in an environment where all rare diseases are considered evil, without any hope outlet or solutions. Its management is multidisciplinary, and often difficult, with a poor prognosis most of the time as a result of poor vision or blindness.
Nevertheless, symptomatic treatment of isolated manifestations, associated with a corneal sensitization could improve quality of life. Genetic tests are often unavailable in our context, despite the fact that genetic counseling is invaluable. Hallermann—Streiff syndrome: case report and literature review. Quintessence Int. Med Arch. Updated on August 23, Accessed February 22, Parikh S, Gupta S. Orodental findings in Hallermann—Streiff syndrome. Indian J Dent Res.
A case of Hallermann—Streiff syndrome with aphakia. Korean J Pediatr. Aubry M. Ann Dermatol Synphiligr. Hallermann W. Vogelgesicht und Cataracta Congenita [Bird face and congenital cataract]. Klin Montatsbl Augenh. Streiff EB. Franceschetti A, Zwahlen P. Un syndrome nouveau : De la dysostose mandibulo-faciale [A new syndrome: the mandibulo-facial dysostosis]. Francois J.
A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. AMA Arch Ophthalmol. Hallermann—Streiff Syndrome: a case report from Turkey. Dyscephaly with congenital cataract. Br J Ophthalmol. Hallermann—Streiff syndrome: a rare case report. Cohen MM Jr. Hallermann—Streiff syndrome: a review. Am J Med Genet. J Fr Ophtalmol. Syndrome de Hallermann—Streiff. Updated on March 26, Hallermann—Streiff syndrome: a case report.
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Alternative titles; symbols. Mental retardation is present in a minority of cases Gorlin et al. Hallermann and Streiff reported patients with dyscephaly, a 'bird-like' face, congenital cataracts, and microphthalmia. Francois identified similar reported cases with the additional features of hypotrichosis, skin atrophy, dental anomalies, and short stature. Dental features were discussed by Caspersen and Warburg Steele and Bass emphasized the lack of mandibular angle and hypoplasia of the clavicles and ribs. Warburg emphasized that the diagnosis is doubtful in the absence of cataract or microphthalmia.
Hallermann—Streiff syndrome is a congenital disorder that affects growth, cranial development , hair growth and dental development. There are fewer than people with the syndrome worldwide. Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas. Patients also have eye problems including reduced eye size , bilateral cataracts  and glaucoma.
A familial study of Hallermann–Streiff–François syndrome
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies with beak-shaped nose and retrognathia , hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities e.
Hallermann-Streiff syndrome HSS is a very rare genetic disorder that has a characteristic facial appearance, dental abnormalities, hypotrichosis, skin atrophy, proportionate short stature, and ophthalmic features such as microphthalmia and congenital bilateral cataracts. The disease was first discussed by Aubry in the late s, but it was documented as a distinct entity by Hallermann in and Streiff in To date, approximately cases have been reported worldwide . The inheritance pattern of HSS is ill defined and males and females are equally affected. The vast majority of cases are attributed to sporadic mutations, but there have been a few rare familial cases reported as well. Two cases of monozygotic twins have been described, where 1 set had both twins affected while the other had only 1 twin affected . The causative gene for HSS is yet to be determined.