|Year : 1987 | Volume
| Issue : 2 | Page : 84-87
Dyscranio-pygo-phalangea (Ullrich-Feichtiger syndrome)
P Sharma, A Panda, SK Angra
Dr. RP. Centre for Ophthalmic Sciences, ALLM.S., Ansari Nagar, New New Delhi-110 029, India
Dr. RP. Centre for Ophthalmic Sciences, ALLM.S., Ansari Nagar, New New Delhi-110 029
Source of Support: None, Conflict of Interest: None
A rare case of Ullrich-Feichtiger Syndrome is described. It is emphasised that though there maybe some overlap with other syndromes like Trisomy 13, Smith-Lemli-Opitz & Meckel's, it has its own identity and should not be overlooked as a 'spurious entity. The incomplete forms of this syndrome should not be misappropriated to other syndromes.
|How to cite this article:|
Sharma P, Panda A, Angra S K. Dyscranio-pygo-phalangea (Ullrich-Feichtiger syndrome). Indian J Ophthalmol 1987;35:84-7
| Introduction|| |
Dyscranio-pygo-phalangea ( Ullrich-Feichtiger syndrome More Details) was first described by Ullrich , but has not been given its due consideration since late. It has been considered to be a "spurious entity', and that all such cases" may be resolved into cases of the Meckels syndrome, Smith-LemliOpitz syndrome, or Trisomy13  This appears to be an overstatement Though there is an overlap of clinical findings in some cases it may be possible to "resolve them" and relegate them to some other syndromes, some cases do pose a diagnostic challenge and claim a separate identity. We report a rare typical case of Ullrich Feichtiger syndrome.
| Case Report|| |
AK, a 14 month old male child first presented to us with complaints of white opacities in both eyes observed by his parents since his birth. He is the first child bom to his parents and the parental ages were 26 years (father) and 24 years (mother at the time of his birth. He had a full term normal delivery with a birth weight of 3.25 Kg. The antenatal, natal and post natal infancy history was insignificant with no history of drug intake during pregnancy. The developmental milestones were within normal limits and he was judged to be having normal intelligence.
Systemically he is undernourished with Microcephaly (Head circumference = 45.0 cm), low set ears, prominent upper lip and upper jaw, small mandible, and a depressed nasal bridge with frontal bossing.
He has small palpebral apertures with bilateral microphthalmos and mesodermal dysgenesis.
Examination under anaesthesia revealed micro cornea, microphthalmos and high intraocular pressure. [Table - 1]
On ultrasonography the posterior segments were normal. His cardiovascular examination revealed a pansystolic parastemal murmur due to ventricular septal defect He has small stubby fingers and hypospadias with cryptorchism.
On investigations he had a normal haemogram, negative TORCH test (for Toxoplasma, Rubella, CMV and Herpes) Chromosomal analysis was 46 X, Y. Skull X-ray showed small orbits and hyper , telorism, micrognathia and prominent maxillae. X-ray chest showed plethora in lungs and cardiomegaly typical of left to right shunt Electrocar , diogram showed biventricular hypertrophy with sinus tachycardia.
Penetrating keratoplasty was done after a trabeculectomy.
| Discussion|| |
Ullrich-Feichtiger syndrome is a cranial deformity characterised by a brady or acro-cephalic skull with a broad nose and small mandible associated with skeletal, visceral and ocular deformities. Though, such a combination of defects were first noted by Bartholin  the clinical syndrome was established by Ullrich in 1951 . The literature has been annotated by various authors ,,,. Smith et al described "newly recognised syndrome of multiple congenital anomalies (S.LO. Syndrome)" .
Of late the Ullrich-Feichtiger syndrome has been considered as a spurious entity . It seems that because of the apparent overlapping of features, it is sometimes difficult to differentiate cases of these entities. We feel that the syndrome of Ullrich-Feichtiger has its own identity, though incomplete cases of these entities may be relegated to one entity or other. A comparison should be made of these four different entities and the findings be compared before diagnosing the syndrome as has been done in our case.
It can be easily inferred that our case confines to typical Ullrich-Feichtiger syndrome We would like to emphasise that this entity should be considered as separate from the others so that this syndrome is not overlooked.
| References|| |
Ullrich O. (1951) Der status Bonnevie-Ullrich im Rahmen anderer `Dyscranio-dysphalangien'. Ergebn. inn. Med. uk indesh. N.F. 2:412, 1951.
OpitzJM(1979) in Birth Defects Compendium 2nd Ed. Ed. Bergsma D. Macmillan Press, London, 1979.
Duke Elder Sir Stewart, Ed. System of Ophthalmology, Vol. III, Henry Kimpton London 1964, p. 1114-1118.
Bartholin N. (1657) as cited by Duke Elder ed. System of Ophthalmology, Vol. III, Henry Kimpton, 1964, pp. 1115-1118.
Hovels & Mullereisert (1955) as cited by Duke Elder e.d. System of Ophthalmology Vol. Ill, Henry Kimpton pp. 1115-1118.
Meyer- Schwickerath (1975) as cited by Duker Elder e.d. System of Ophthalmology Vol. III, Henry Kimpton, 1964, pp. 1115-1118.
Geeracts W.J. Ocular Syndromes e.d. 3, Lea & Febiger, Philadelphia 1976, pp. 430, 400, 426, 289.
Roy F.H. Ocular Syndromes and Systemic Diseases, Grune and Stratton Inc Orlando, 1985, pp. 291.
Smith D.W. Lemli L and Opitz, J.M., Newly recognised syndrome of Multiple anomalies, J. Pediat, 64: 210, 1964.
[Table - 1], [Table - 2]