|
 
 |
| CASE REPORT |
|
| Year : 2016 | Volume
: 21
| Issue : 1 | Page : 56-58 |
|
Marshall-Stickler spectrum
Aliyu Ibrahim
Department of Pediatrics, Aminu Kano Teaching Hospital, Bayero University, Kano, Nigeria
| Date of Web Publication | 4-Mar-2016 |
Correspondence Address:
Aliyu Ibrahim
Department of Pediatrics, Aminu Kano Teaching Hospital, Bayero University, Kano
Nigeria
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0971-9903.178108
Differentiating Stickler syndrome from Marshall syndrome poses a diagnostic challenge. The case of an African child who had physical characteristics of both syndromes and a ventricular septal defect is reported. There is a need therefore to harmonize the clinical features of both syndromes in view to establishing a common diagnostic criteria; more so both syndromes could be variants of same congenital malformation. Keywords: Stickler syndrome, marshall syndrome, ventricular septal defect
How to cite this article:
Ibrahim A. Marshall-Stickler spectrum. J Mahatma Gandhi Inst Med Sci 2016;21:56-8 |
| Introduction | |  |
Stickler syndrome was first described in 1965; [1] it is also called oculoarthropathy [2] and it is autosomal dominant, though autosomal recessive variants and sporadic cases have rarely been documented. [3] The clinical features were expanded and harmonized by Herrmann et al. [4] It is due to mutation in type II, IX and XI collagen (COL2AI, COL11A1 and COL11A2) which is an important component of connective tissue of cartilages, heart valves, vitreous humors of the eye; which explains the common organs affected in this disorder. [5] Mutations in different genes, namely COL9A1 and COL9A2 has been associated with the autosomal recessive variants. [6],[7]
Both sexes are equally affected and there is no racial predilection; the clinical features in Stickler syndrome are the mid-facial hypoplasia (which may be associated with Pierre-Robin sequence), ocular defects-such as myopia, glaucoma, retinal detachment, cataract- and arthropathy which may include hypermobile joints, double jointedness, however short stature is not an associated feature; but rather seen in patients with Marshall syndrome which has similarity with Stickler syndrome, [8] therefore the case of 9-year-old Nigerian boy who had clinical characteristics of both Stickler and Marshall syndromes is reported.
| Case Report | | |
The present case report is about a 9-year-old boy who was referred for cardiac evaluation in preparation for cataract extraction. He had complaints of reduced vision and deafness; with recurrent bilateral ear discharge for which he was treated with antibiotics. He was born of non-consanguineous parents and was the 5 th in a monogamous family of 7 children; and there was no family history of a similar problem; he had mid-facial hypoplasia with bilateral cataract (lamellar cataract); he was small for age with weight of 15 kg (z < −3); standing height of 104 cm (z score < −3); arm span of 107 cm; sitting height of 59 cm; lower body segment of 59 cm (upper segment: lower segment ratio of 0.8); and occipito-frontal circumference of 52 cm; he had depressed nasal bridge, overbite malocclusion of the jaw with lumbar lordosis and bilateral genu vara deformity [Figure 1]. His pulse rate was 100/min, blood pressure of 110/60 mmHg sitting, right arm; he had a normal jugular venous pressure; apex-beat was displaced (at 6 th left intercostal space) with a normal first and second heart sound with systolic murmur at the left sternal margin. Neurologic examination-the cranial nerves, tone, power and sensation-were normal.
Chest X-ray showed cardiomegaly with the cardio-thoracic ratio of 55%; the electrocardiogram was not remarkable. An ALOKA SSD ultrasound system, with facilities for M-mode, 2D, color flow mapping and Doppler studies was used for echocardiography. All measurements were carried out using 5.0 MHz sector transducer. However, the transthoracic 2D echocardiogram revealed a 5 mm peri-membranous ventricular septal defect [VSD - [Figure 2], with aortic diameter of 12 mm (the VSD was 42% of the aortic diameter) measured across the valve annulus, color flow mapping showed left to right shunt, M-mode showed normal left ventricular systolic function; the pelvic and spinal X-rays were not remarkable except for the lumbar lordosis [Figure 3]; skeletal X-ray of the limbs [Figure 4] revealed fraying of the distal ends of both femur with bowing at both knees; the diagnosis of Marshall-Stickler syndrome was made. The serum calcium, phosphate and alkaline phosphatase were normal. He had a successful cataract extraction and he is been followed-up at the orthopedic and pediatric cardiology units. | Figure 2: Chest X-ray and echocardiogram showing cardiomegaly and a ventricular septal defect respectively
Click here to view |
| Discussion | | |
The index case had clinical features consistent with stickler syndrome such as mid-facial hypoplasia with prominent upper lip and hypoplasia of the jaw, exaggerated lumbar lordosis, cataract, short-sightedness, deafness with recurrent ear infection although there was no palatal cleft. He had VSD rather than a mitral valve prolapse, which is seen in about 50% of cases. [9] However, absence of Pierre Robin sequence and presence of short stature with prominent upper incisors which are commoner in Marshall syndrome [10] made it a variegate presentation of both syndromes.
Therefore, both syndromes are probably varied manifestation of the same genetic defect as was suggested by Baraitser. [11] Although both are mostly autosomal dominant defect, there was no family history of similar disorder in other family members in the index case which made it either autosomal recessive or sporadic.
Non-availability of genetic analysis hampered pedigree analysis in this case; since there may be interfamilial and intrafamilial variability in clinical expression. Furthermore, lack of a general consensus in the clinical diagnostic criteria of Sticklers syndrome has hampered determination of the true prevalence of this defect especially in resource limited setting. Therefore, there is the need to harmonize the clinical features and establish a common diagnostic scoring system based on the clinical features.
| Conclusion | | |
Marshall syndrome closely resembles Stickler syndrome and should be seen as a continuum of same genetic disorder. Efforts should be made to establish generally acceptable clinical diagnostic criteria.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
| References | | |
| 1. | Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965;40:433-55.  |
| 2. | Stickler GB, Pugh DG. Hereditary progressive arthro-ophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clin Proc 1967;42:495-500. |
| 3. | Faber J, Winterpacht A, Zabel B, Gnoinski W, Schinzel A, Steinmann B, et al. Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: Implications for genetic counselling. J Med Genet 2000;37:318-20. |
| 4. | Herrmann J, France TD, Spranger JW, Opitz JM, Wiffler C. The stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Orig Artic Ser 1975;11:76-103. |
| 5. | Poulson AV, Hooymans JM, Richards AJ, Bearcroft P, Murthy R, Baguley DM, et al. Clinical features of type 2 Stickler syndrome. J Med Genet 2004;41:e107. |
| 6. | Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet 1999;65:974-83. |
| 7. | Knowlton RG, Weaver EJ, Struyk AF, Knobloch WH, King RA, Norris K, et al. Genetic linkage analysis of hereditary arthro-ophthalmopathy (stickler syndrome) and the type II procollagen gene. Am J Hum Genet 1989;45:681-8. |
| 8. | Snead MP, Yates JR. Clinical and Molecular genetics of stickler syndrome. J Med Genet 1999;36:353-9. |
| 9. | Liberfarb RM, Goldblatt A. Prevalence of mitral-valve prolapse in the stickler syndrome. Am J Med Genet 1986;24:387-92. |
| 10. | Shanske AL, Bogdanow A, Shprintzen RJ, Marion RW. The Marshall syndrome: Report of a new family and review of the literature. Am J Med Genet 1997;70:52-7. |
| 11. | Baraitser M. Marshall/Stickler syndrome. J Med Genet 1982;19:139-40. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4]
|
Search Pubmed for