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 Table of Contents  
CASE REPORT
Year : 2019  |  Volume : 5  |  Issue : 1  |  Page : 47-50

A unique case of a genu valgum deformity manifested in Hallermann–Streiff syndrome


1 Department of Orthopedics, Division of Pediatric Orthopedic Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Orthopaedic Surgery, Faculty of Medicine, National Orthopaedic Centre of Excellence for Research and Learning (NOCERAL), University of Malaya, Kuala Lumpur, Malaysia
2 Department of Orthopedics, AlRazi Hospital, Kuwait Institution for Medical Specializations, Kuwait City, Kuwait
3 Department of Orthopedics, Division of Pediatric Orthopedic Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Orthopaedic Surgery, KK Women's and Children's Hospital (KKH), Singapore
4 Department of Orthopedics, Division of Pediatric Orthopedic Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Date of Web Publication23-Aug-2019

Correspondence Address:
Dr. Thamer S Alhussainan
Department of Orthopedics, Division of Pediatric Orthopedic Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jllr.jllr_11_19

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  Abstract 


Hallermann–Streiff syndrome (HSS) is a relatively rare genetic disorder causing mainly dysmorphic craniofacial features. Very few cases are reported in the literature, none of which reported lower limb skeletal deformity. The main objective of this paper is to report a skeletal manifestation of HSS and the outcomes of its surgical treatment. A patient with HSS was evaluated, treated with corrective surgery, and followed up at the authors' hospital. The standard guidelines for genu valgum correction by guided growth method were applied on both limbs using an 8-plate system at the distal femurs. Subjective and objective satisfaction was achieved with the return of functional status. The surgical treatment was successful, and the patient went back to the potential functional level without significant impairment.

Keywords: Genu valgum, growth modulation surgery, guided growth treatment, Hallermann–Streiff syndrome, hemiepiphysiodesis, osteopetrosis, skeletal dysplasia


How to cite this article:
Alshammari AN, Khaja AF, Alabdullatif MA, Alhussainan TS. A unique case of a genu valgum deformity manifested in Hallermann–Streiff syndrome. J Limb Lengthen Reconstr 2019;5:47-50

How to cite this URL:
Alshammari AN, Khaja AF, Alabdullatif MA, Alhussainan TS. A unique case of a genu valgum deformity manifested in Hallermann–Streiff syndrome. J Limb Lengthen Reconstr [serial online] 2019 [cited 2019 Nov 18];5:47-50. Available from: http://www.jlimblengthrecon.org/text.asp?2019/5/1/47/265353




  Introduction Top


Hallermann–Streiff syndrome (HSS) is a rare genetic disorder combining anomalies affecting the skull and face, mainly. It is characterized by dyscephaly, hypotrichosis, micrognathia, micro-ophthalmia, cataracts, proportionate short stature, skin atrophy, dental anomalies, and a narrow- and weak-beaked nose.[1] The exact cause of this condition has not yet been determined.

Although the earliest account describing an incomplete picture of this syndrome was dated in 1893, it was not fully described until 1948 when Hallermann[2] then Streiff[3] in 1950 presented this syndrome as a separate entity. Later, more researchers helped to define this syndrome. François in 1958 further described the syndrome, and it was named François syndrome and François dyscephalic syndrome interchangeably.[4]

While some studies argue that it appears to be sporadic with no previous disposition, others argue that it has an autosomal recessive inheritance pattern.[5] The diagnosis of HSS is clinical, based on history and physical features. Currently, no specific genetic tests are present to confirm the diagnosis of HSS.[5]

The literature has established that HSS patients do suffer from a diffuse bone disease; but, to the best of our knowledge, no lower limb deformities were reported previously.

Our study aims to report an unusual skeletal association with HSS, which is bilateral genu valgum and evaluate the surgical outcomes of a currently used modality of treatment, which is the guided growth method in treating genu valgum in HSS patient.


  Case Report Top


In 2002, a 2-year-old boy was referred to the medical genetics clinic in our institute, for an evaluation of his dysmorphic features and developmental delay. He is a product of a full-term pregnancy, delivered by cesarean section, as he was prenatally diagnosed to have a large head via ultrasound scan at 35 weeks' gestation. He was admitted to the neonatal intensive care unit for about 2 weeks as he developed a severe hyperbilirubinemia requiring exchange transfusion. He was noted to have dysmorphic craniofacial features with macrocephaly. A computed tomography scan of the brain was done, which showed arrested hydrocephalus. The family history revealed consanguineous parenthood ( first cousins). Before the birth of this boy, the parents had three daughters and three sons, who are all alive and well. There was a significant history of intrauterine fetal death in four pregnancies in-between conceptions.

The physical examination at that time showed that he had dysmorphic facial features, with brachycephaly, alopecia, micro-ophthalmia, esotropia, congenital cataract, small nose, thin lips, and low set ears.

Radiologically, a dysmorphia survey revealed a small face in comparison to his cranium. He has a notably increased mandibular angle with an absence of the sinuses and sclerosis of the skull. All his limbs were mildly yet proportionally shortened and widened. Mild cortical thickening was noted on the radiographical survey associated with trabeculation of the hands and feet.

The chromosomal analysis was normal, and the clinical evaluation concluded that the patient had signs in keeping with HSS.

The patient was followed up regularly with the departments of ophthalmology, otolaryngology, and dentistry. Later, he underwent multiple oral, maxillofacial, and ophthalmological surgeries.

At the age of 15 years, he presented to the pediatric orthopedic clinic with the chief complaint of easy fatigue ability during walking despite that he was an independent walker.

A further clinical evaluation concluded that the patient had bilateral genu valgum deformity, associated with a crouched gait, which was related to weakness in his quadriceps muscles. There were no contractures found around the knees and ankles. The measurements of his mechanical axis deviation (MAD) showed the right limb to have a 3 cm distance lateral to the center of the right knee joint and 3.5 cm distance lateral to the center of the left knee joint. The tibiofemoral angle for the right lower limb was in 9.8° valgus and for the left was in 10.6° valgus [Figure 1]. The bone mineral density studies reflected an osteopetrotic picture throughout the appendicular and axial skeleton, and the Z-score was 5.1. The radiological report stated that there is a generalized increase in bone density with a mild diffuse medullary bone expansion mimicking osteopetrosis manifestation. The metabolic workup was normal. The radiographs showed a patent distal femoral physis making him a candidate for guided growth treatment, which is a modality commonly used to correct angular deformities associated with skeletal dysplasias and metabolic bone diseases although there were no reports in the literature regarding its efficacy in osteopetrotic-like or thickened cortical bones.
Figure 1: A scanogram of the patient for both lower limbs at the age of 15 years

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Despite this fact, and because of the low rate and magnitude of complications related to guided growth treatment, it was selected as the surgical procedure to be offered for this patient. After taking informed consent from the patient's caregivers, he was booked for bilateral distal femur hemiepiphysiodesis.

Under general anesthesia, a tourniquet was used throughout the procedure. An eight-plate size 16 mm and size 32 mm screws were used under fluoroscopy guidance to confirm the trajectory and position of the plate and screws; the bone was hard and difficult to penetrate.

We then followed the patient up after 3 months, then 6 months, and then again at 9 months [Figure 2], [Figure 3], [Figure 4]. When we achieved the amount of correction, MAD for the right limb had a 1.8 cm distance medial to the center of the right knee joint and the left had a 0.3 cm distance lateral to the center of the left knee joint. The tibiofemoral angle for the right lower limb was in 4.6° varus, and the left was in 0.6° valgus. A month after his last visit, the hardware was removed without any complications. The corrective surgery had rendered the patient satisfied, improved his ambulatory level, and he was able to walk on level surface independently. At his 6-month follow-up visit postremoval, there was no relapse of the deformity and had a satisfactory outcome [Figure 5].
Figure 2: A scanogram of the patient for both lower limbs at 6-month follow-up after surgery

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Figure 3: A scanogram of the patient for both lower limbs at 9-month follow-up after surgery

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Figure 4: A photograph of the patient for both lower limbs at 9-month follow-up after surgery

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Figure 5: A scanogram of the patient for both lower limbs at 6-month follow-up after the hardware removal

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  Discussion Top


HSS is a rare genetic disorder with no previously described skeletal deformities. This case elaborated the presence of dense sclerotic bones with valgus malalignment of the lower extremities.

Guided growth method as a well-described surgical method to correct the lower limbs' malalignment problems is selected as the treatment of choice for individuals with genu valgum whenever it is possible.[6] Guided growth modulation does not always yield the desired results, especially in patients with severe or multiple deformities. It is also less predictable in conditions with a pathological physis, which are seen in dysplasias such as our patient.[7] Stevens describes the potential success for guided growth in this group of patients as other children with normal physis.[6] The timing of the intervention is governed by the presence of functional limitations, gait disturbances, and occasional pain.

The literature is lacking any supportive evidence about the usage and response of the guided growth method treating angular deformities in osteopetrotic bones. The reasons behind selecting the guided growth method to correct the coronal deformity, in this case, where the presence of clearly open distal femoral physis, the mild degree of the deformity, the simplicity of the procedure, and its limited complications. The same published guided growth treatment standards were applied in this case without any modification, and it resulted in almost the same good response to treatment. This case report is considered to be the first documented evidence on the efficacy of the guided growth method to correct the angular deformities in osteopetrotic bones. Children suffering from osteopetrotic bones are at higher risk of developing angular deformities due to their increased risks of fractures, and we believe that guided growth method could provide a good alternative to correct deformities in those patients instead of the challenging corrective osteotomies on those hard bones.


  Conclusion Top


HSS patient may suffer from lower limb malalignment, which could negatively affect their functional capabilities. Guided growth treatment is a safe and effective way to treat this malalignment despite the presence of the osteopetrotic bones in those patients.

Informed consent

The patient has provided both verbal and written consent on the required specialized forms provided by the treating hospital.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Cohen MM Jr. Hallermann-Streiff syndrome: A review. Am J Med Genet 1991;41:488-99.  Back to cited text no. 1
    
2.
Rohrbach JM, Djelebova T, Schulze Schwering MJ, Schlote T. Hallermann-Streiff-Syndrom: Sollte die Spontanresorption der getrübten Linse abgewartet werden? Klin Monbl Augenheilkd Stuttgart 1948;113:315-8.  Back to cited text no. 2
    
3.
Streiff EB. Mandibulo-facial dysmorphism (bird's head) and ocular alterations. Ophthalmol Basel 1950;120:79-83.  Back to cited text no. 3
    
4.
Barrucand D, Benradi C, Schmitt J. François syndrome: Proposed two cases. Rev Oto Neuro Ophthal 1978;50:305.  Back to cited text no. 4
    
5.
Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Online Mendelian inheritance in man (OMIM). Hum Mutat 2000;15:57-61.  Back to cited text no. 5
    
6.
Stevens PM. Guided growth: 1933 to the present. Strategies Trauma Limb Reconstr 2006;1:29-35.  Back to cited text no. 6
    
7.
Yilmaz G, Oto M, Thabet AM, Rogers KJ, Anticevic D, Thacker MM, et al. Correction of lower extremity angular deformities in skeletal dysplasia with hemiepiphysiodesis: A preliminary report. J Pediatr Orthop 2014;34:336-45.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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