Risk Factor Assessment and a Ten-Year Experience of DDH Screening in a Well-Child Population

Kural, Bahar; Karapinar, Esra; Yılmazbaş, Pınar; Eren, Tijen; Gökçay, Gülbin

doi:10.1155/2019/7213681

Cited by 34 publications

(43 citation statements)

References 29 publications

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“…In fact, early age significantly associated with a set of key clinical features including intellectual disability/global developmental delay, seizures, high/cleft palate and facial dysmorphism (Tables S2–S4). The association between sex and congenital hip dislocation with an excess of the latter among males seems to reflect the well‐known trend in the general population (Kural, Devecioglu Karapinar, Yilmazbas, Eren, & Gokcay, 2019). Our analysis further confirmed the lack of any reliable genotype–phenotype correlations (Beyens et al, 2019).…”

Section: Discussionsupporting

confidence: 53%

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A

Morlino

Nardella

Castellana

et al. 2020

American J of Med Genetics Pt A

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ATP6V0A2‐related cutis laxa, also known as autosomal recessive cutis laxa type 2A (ARCL2A), is a subtype of hereditary cutis laxa originally characterized by skin, skeletal, and neurological involvement, and a combined defect of N‐glycosylation and O‐glycosylation. The associated clinical spectrum subsequently expanded to a less severe phenotype dominated by cutaneous involvement. At the moment, ARCL2A was described in a few case reports and series only. An Italian adult woman ARCL2A with a phenotype restricted to skin and the two novel c.3G>C and c.1101dup ATP6V0A2 variants has been reported. A systematic literature review allowed us to identify 69 additional individuals from 64 families. Available data were scrutinized in order to describe the clinical and molecular variability of ARCL2A. About 78.3% of known variants were predicted null alleles, while 11 were missense and 2 affected noncanonical splice sites. Age at ascertainment appeared as the unique phenotypic discriminator with earlier age more commonly associated with facial dysmorphism (p .02), high/cleft palate (p .005), intellectual disability/global developmental delay (p .013), and seizures (p .024). No specific genotype–phenotype correlations were identified. This work confirmed the existence of an attenuated phenotype associated with ATP6V0A2 biallelic variants and offers an updated critique to the clinical and molecular variability of ARCL2A.

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Section: Discussionsupporting

confidence: 53%

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A

Morlino

Nardella

Castellana

et al. 2020

American J of Med Genetics Pt A

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“…Possible risk factors of DDH include family history of DDH, breech presentation, oligohydramnios, birth weight > 3.5 kg, postterm pregnancy, firstborn baby and swaddling [14,15]. In our study, 14/153 infants (9.2%) had family history of DDH and 6/14 of them (42.9%) failed the treatment.…”

Section: Discussionmentioning

confidence: 48%

Tübingen hip flexion splints for developmental dysplasia of the hip in infants aged 0–6 months

Zhou

Li³

et al. 2020

BMC Pediatr

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Background: Developmental dysplasia of the hip (DDH) is a common disorder in infants. The present study aimed to evaluate the efficacy and safety of the Tübingen hip flexion splints in treating DDH in infants aged 0-6 months. Methods: This is a retrospective study analyzing 259 hips in 195 infants with DDH of Graf type IIc or worse classifications treated between January 2015 and December 2017. Patients were followed up for at least 6 months. Avascular necrosis of the femoral head was diagnosed using plain radiographs at the last follow-up visit according to the Bucholz-Ogden classification. Successful treatment was defined as an improvement of the Graft classification to type I, or an improvement of the International Hip Dysplasia Institute classification to type I in patients aged > 6 months. Results: Treatment was deemed successful in 128 patients (83.7%). Avascular necrosis occurred in 3 patients (3 hips). Univariate analysis showed that late treatment initiation, family history of DDH, Graf type IV and bilateral involvement were independent risk factors for treatment failure (p < 0.05). The receiver operating characteristic curve showed a cutoff value of 12 weeks for age at treatment initiation regarding successful treatment. Logistic regression analysis showed that gender, breech presentation, firstborn, swaddling, birth weight > 3.5 kg, oligohydramnios, foot deformity and torticollis did not affect the success rate of treatment (p > 0.05). Conclusions: The Tübingen splint showed good efficacy and safety in treating DDH in infants aged 0-6 months. Family history of DDH, Graf classification of type IV, bilateral involvement and treatment initiation after 12 weeks of age are risk factors of treatment failure. Trial registration: N/A

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“…DDH may also manifest without clinical instability as solely radiological abnormalities [ 1 ]. The etiology is multifactorial, with the strongest risk factors being the breech position, female sex, family history, and primiparity [ 2 - 3 ]. Cases may present anywhere from birth to late infancy.…”

Section: Introductionmentioning

confidence: 99%

Utility of Clinical and Ultrasonographic Hip Screening in Neonates for Developmental Dysplasia of the Hip

Yu¹,

Gunaseelan²,

Malik³

et al. 2021

Cureus

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Developmental dysplasia of the hip (DDH) is a musculoskeletal condition occupying any point along a spectrum of anatomical abnormalities that alter the stability of the newborn hip. Presentation varies throughout infancy and the majority of cases, especially those that are mild in nature, tend to resolve without intervention. An analysis of outcomes was conducted on infants born over a two-year period at a single-center, community hospital in East Toronto. The unwritten norm at the institution has become to order hip ultrasonography for all infants born in the breech position through C-section. Given the healthcare expenditure associated with routine radiographic screening, a careful analysis was undertaken to ascertain whether this screening regimen was effective in preventing late-stage detection of advanced DDH and improving organization in patient management. There were a total of 4236 babies delivered over the two years. One-hundred sixty-four (164) babies were born breech and through C-section. Eight (8) babies had abnormal hip examinations, one of whom was ultimately diagnosed with DDH. Forty-six (46) babies showed abnormal hip ultrasound at six weeks. Seventeen (17) referrals were made to the orthopedic surgeon. This resulted in a total of seven cases of DDH being diagnosed over the two years. The sensitivity and specificity of clinical hip screening were 14.3% and 95.5%, respectively, while that for ultrasound screening was 100% and 75.2%.To improve the quality of care and detection of DDH, a risk factor analysis was conducted to retrospectively analyze which DDH cases would have been missed if a higher threshold to ordering hip ultrasonography had been used. Based on the test characteristics of clinical and ultrasonographic screening, held in conjunction with the risk factor analysis results, an altered screening regimen was proposed with the intention of being just as sensitive but more cost-effective. This regimen integrates clinical screening using Barlow and Ortalani maneuvers until the eight to 10-week period and examines for limited abduction from eight weeks onward. Adjuncts like the Galeazzi test and that for asymmetrical skin folds should also be included to increase the sensitivity of clinical screening. Ultrasonography is proposed for high-risk individuals, with the criteria for stratification as high-risk being extracted from the risk factor analysis. Ultrasound is also proposed to be done in a serial fashion prior to orthopedic surgery referral in cases where the age of the infant allows, which serves to better evaluate the risk for lasting DDH and understand the longitudinal trajectory of the patient. This serves the additional purpose of decreasing the psychosocial burden on families. This can be particularly significant for infants for whom the initial abnormalities are due to selfresolve with the maturation of the hip joint and the infant's growth.

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Risk Factor Assessment and a Ten-Year Experience of DDH Screening in a Well-Child Population

Cited by 34 publications

References 29 publications

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A

Tübingen hip flexion splints for developmental dysplasia of the hip in infants aged 0–6 months

Utility of Clinical and Ultrasonographic Hip Screening in Neonates for Developmental Dysplasia of the Hip

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