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RESEARCH REPORTS

Relationship Between Torticollis and Gastroesophageal Reflux Disorder in Infants

Bercik, Deborah PT; Diemer, Susan PT, PCS; Westrick, Stephanie PT, DPT; Worley, Sarah MS; Suder, Ryan OTR/L, BCP, PhD

Author Information
doi: 10.1097/PEP.0000000000000592
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INTRODUCTION

Torticollis” is a term used to describe an asymmetric neck posture. The word is derived from the Latin words for “twisted” and “neck.” Historically, the etiology of torticollis has been divided into 2 categories based on time of presentation: congenital, or present at birth, and acquired, or originating postnatally.1–3 Typically, congenital muscular torticollis (CMT) is caused by a shortened sternocleidomastoid (SCM) muscle, which tilts the head toward the ipsilateral shoulder and rotates the face toward the contralateral shoulder and is identified shortly after birth or within the first few months antenatally.1,2,4 Acquired, or nonmuscular, torticollis has multiple etiologies, including skeletal abnormalities: including Klippel-Feil syndrome and scoliosis; visual/ocular disorders: including Duane syndrome and fourth cranial nerve palsy; minor trauma to the head or neck with or without resultant brachial plexus injury; the presence of a brain tumor; and Sandifer syndrome.1,2,5–12 The incidence of CMT ranges from 0.3% to 2% in newborns, but has been reported as high as 16%, with a higher frequency in males.1,2,4,11 Research has identified links between torticollis and plagiocephaly, breech presentation, and developmental hip dysplasia in infants.1–4,8,10,11,13–20 The literature does not reflect a correlation between gastroesophageal reflux disorder (GERD), a common pediatric diagnosis, and CMT. Initial research by Ramenofsky et al21 did not conclude a relationship between the diagnoses.

Infants diagnosed with CMT are commonly evaluated and treated in pediatric physical therapy clinics. CMT may be caused by several pathologies. The most common presentation includes a restriction of the SCM muscle, which prevents it from performing one or both of its intended actions of ipsilateral cervical lateral flexion and contralateral cervical rotation. CMT can be classified into 2 categories, which include SCM mass, muscular torticollis without palpable tumor, and postural torticollis without sternocleidomastoid tumor or range of motion deficit.1–4 Frequently, shortening of the SCM is visible and easily palpable during the first few weeks following delivery.8,16 When an infant presents with muscular torticollis, a range of motion deficit of 5 degrees or greater is present in cervical rotation and/or cervical lateral flexion when compared with the unaffected side. In 70% of cases, palpation reveals either a distinct mass in the muscle belly or generalized tightness throughout the muscle.1,2,4,11 The SCM may appear as a fibrotic band upon palpation.3

A diagnosis of torticollis is often associated with developmental dysplasia of the hip (DDH) and a prenatal history remarkable for oligohydramnios, multiparity, and breech positioning.3,4,10–14,17,18,20,22 The relationship between DDH and CMT was first reported by Iwahara and Ikeda in 1962 and has been documented in recent studies with rates reported between 2% and 29%.4,13,14,16–18,21 The clinically apparent torticollis or a history of breech positioning in utero prompts a pediatrician to evaluate an infant for hip dysplasia, leading to a diagnosis of DDH in 1% to 4% of newborns.10 Specific biological mechanisms leading to DDH and CMT are not known; however, the causes of both diseases appear to be related to intrauterine molding of the fetal skull and hips to the size and shape of the mother's body. Risk factors for DDH include intrauterine positioning, male sex, birth order, and family history.4,16 Oligohydramnios, or decreased amniotic fluid, may be a risk factor for both disorders because it can cause decreased fetal movement of the head and neck, which may result in contractures of the muscles of the cervical spine.12,22 Multiparity, such as with twin or triplet gestation, can be a cause of CMT. When multiple fetuses share limited uterine space, there is less room for movement, increasing the likelihood of SCM contracture.11,12,23 Breech positioning is also a comorbidity in infants with CMT in 3.2% to 26% of cases.4,6,11,13,19

Pediatric physical therapists have noted a significant number of patients with coexisting diagnoses of both torticollis and GERD. In 2013, the American Academy of Pediatrics published “Gastroesophageal Reflux: Management Guidance for the Pediatrician,” which distinguished GERD from GER (gastroesophageal reflux). According to the report, GER is defined as “the physiologic passage of gastric contents into the esophagus, generally associated with transient relaxations of the lower esophageal sphincter independent of swallowing, which permits gastric contents to enter the esophagus.”23 GER is considered a normal physiologic process that occurs several times a day in more than two-thirds of otherwise healthy infants, and is described in these “happy spitters” as “effortless, painless and (which) does not affect growth.”23 Vomiting can also be considered common and a normal manifestation of GER.

The American Academy of Pediatrics report states that common symptoms of GERD in infants include regurgitation or vomiting associated with irritability, anorexia or feeding refusal, poor weight gain, swallowing that is presumed to be painful, and arching of the back with feedings.23 GERD in infants can also manifest as extraesophageal symptoms of coughing, choking, or upper respiratory symptoms. A history and physical examination without such warning signs are sufficient to reliably diagnose uncomplicated GER and initiate conservative treatment strategies without diagnostic testing.23 Determining the prevalence of GERD versus GER is difficult because of the “unclear demarcation between physiological and pathological reflux.”24 Lightdale et al stated that “To date, no single symptom or cluster of symptoms can reliably be used to diagnose complications of GERD and there is no single test that can rule GERD in or out”.25 Typically, the path to a diagnosis of GERD begins when a parent reports to the pediatrician that the infant is having bouts of fussiness that appear to be due to stomach discomfort or of “spitting up.” Often a gastroenterologist is consulted and a diagnosis of GERD is made.

A dual diagnosis of CMT and GERD is not the same as having Sandifer syndrome, an uncommon condition that presents similarly with both torticollis and GERD. It is characterized by gastroesophageal reflux, irritability, abnormal movements of the body, and contortions of the neck, but presents without abnormal orthopedic findings within the head and the neck.12,26 It is theorized that an infant presents with abnormal torticollis posturing to alleviate discomfort from esophagitis caused by frequent vomiting.3,12 Ramenofsky et al21 conducted a study in 1978 that focused on Sandifer syndrome and torticollis and recommended that babies diagnosed with CMT also be assessed for GERD. No additional studies exploring a connection between the diagnoses have been found. This study's primary purpose was to examine associations between CMT and GERD and to potentially provide additional treatment strategies to pediatricians and therapists. The secondary purpose of this study was to document, within this sample, specific other comorbidities including DDH, multiparity, breech presentation, and oligohydramnios, to more fully describe the overall clinical presentation of children with CMT. The examination of these established comorbidities aims to support areas of the Academy of Pediatric Physical Therapy's 2018 CMT clinical practice guideline and to provide a more accurate clinical picture of infants with CMT.1

METHODS

Participants

The study team completed a retrospective chart review on all infants diagnosed with torticollis in the Cleveland Clinic Health System, with an initial date of service between January 1, 2010, and December 31, 2015. Facility Institutional Review Board approval was obtained prior to the beginning of this study.

The primary data set used in this study included all infants within the Cleveland Clinic Health System diagnosed with torticollis. To be included, infants had to be younger than 12 months and have a diagnosis of either torticollis, unspecified or CMT, with International Classification of Diseases, Ninth Revision (ICD-9) codes of 723.5 and 754.1 and International Classification of Diseases, Tenth Revision (ICD-10) codes of M43.6 and Q68.0. These criteria resulted in an initial data set of 2538 infants. Data points were excluded from the initial data set if infants were older than 12 months when diagnosed with torticollis or had diagnoses of traumatic torticollis, acquired torticollis, or congenital musculoskeletal deformities of the skull, face, or jaw. Excluded ICD-9 and ICD-10 codes included psychogenic torticollis (306.0 and F45.8), ocular torticollis (781.93 and R29.891), spasmodic torticollis (333.83 and G24.3), and torticollis due to birth injury (767.8 and P15.2).

Data Analysis

The primary data set of 2538 infants diagnosed with torticollis was examined to determine whether there was a correlation between torticollis and the presence of GERD. Participants were then screened for diagnostic codes for GERD including 530.11 (GERD with esophagitis) and 530.81 (GERD without esophagitis) in the ICD-9 and K21.0 (GERD with esophagitis) and K21.9 (GERD without esophagitis) in the ICD-10. The following diagnoses were excluded: fussy infant (ICD-9 code 780.91 and ICD-10 code R68.12), feeding intolerance (ICD-9 code 779.31 and ICD-10 code P92.9), and protein intolerance (ICD-9 code 579.81 and ICD-10 code K90.4).

The demographics and comorbidities of infants with and without GERD were compared using nonparametric Kruskal-Wallis tests for continuous variables and χ2 tests for categorical variables. Confidence intervals for the binomial proportion of GERD and the comorbidities of DDH, oligohydramnios, multiparity, and breech position were computed. Two-sided binomial tests were then used to compare the torticollis cohort to published data from normal populations on the prevalence of GERD and the associated comorbidities.3,5,18,20,22,27,28 These analyses were performed for the entire cohort and within each age group (0-3, 4-6, 7-9, and 10-12 months). All tests were 2-tailed and performed at a significance level of .05. SAS 9.4 software (SAS Institute, Cary, North Carolina) was used for analyses.

RESULTS

A randomized analysis of the data from primary and secondary data pulls was then performed by the study investigators. Members of the team manually reviewed randomized sets of the electronic medical records (EMRs) of patients with a verified diagnosis of either torticollis or CMT. Each EMR was also manually reviewed to verify the presence or absence of diagnosis codes for GERD and the diagnoses with previously established correlations to torticollis. During the initial data control process, the team reviewed 1 set of 10 participants' EMRs. A 20% error rate was found. Due to the high rate of error, the data were reanalyzed and returned with 2519 charts identified. The team randomly selected 123 charts and found a 9% error rate. Of the 2519 infants identified with torticollis, 41.8% were female and 58.2% were male (Table 1). The median age at initial diagnosis of torticollis was 3.0 months. The GERD diagnosis was present in 27.9% of infants.

TABLE 1 - Torticollis Cohort
Variable n (%) n = 2519
Gender
Female 1052 (41.8)
Male 1467 (58.2)
Age at first encounter, median (range), mo 3.0 (0.0-12.0)
Age at first encounter, mo
0-1 515 (20.4)
2-3 968 (38.4)
4-5 598 (23.7)
6-12 438 (17.4)
Breech positioning 139 (5.5)
Multiparity 52 (2.1)
Oligohydramnios 75 (3.0)
Developmental dysplasia of the hip 30 (1.2)
Gastroesophageal reflux disorder 703 (27.9)

Within the torticollis cohort, infants who presented with GERD were significantly more likely than those without GERD to have histories of breech presentation (7.7% vs 4.7%, P = .003), oligohydramnios (4.8% vs 2.3%, P < .001), or DDH (2.1% vs 0.83%, P = .007) (Table 2). There were no statistically significant differences between infants identified with or without GERD in sex (P = .75), history of multiparity (P = .44), or median age at first encounter (P = .17).

TABLE 2 - Torticollis Cohort by Diagnosis of Gastroesophageal Reflux Disorder
Variable No GERD, n (%) n = 1816 GERD, n (%) n = 703 P Value
Gender 0.75
Female 762 (42.0) 290 (41.3)
Male 1054 (58.0) 413 (58.7)
Age at initial diagnosis, median (range), mo 3.0 (0.0-12.0) 3.0 (0.0-11.0) .17a
Age at initial diagnosis, mo .022a,c
0-1 351 (19.3) 164 (23.3)
2-3 701 (38.6) 267 (38.0)
4-5 434 (23.9) 164 (23.3)
6-12 330 (18.2) 108 (15.4)
Breech positioning 85 (4.7) 54 (7.7) .003b
Multiparity 35 (1.9) 17 (2.4) .44b
Oligohydramnios 41 (2.3) 34 (4.8) <.001b
Developmental dysplasia of the hip 15 (0.83) 15 (2.1) .007b
Abbreviations: GERD, gastroesophageal reflux disorder.
aKruskal-Wallis test.
bPearson χ2 test.
cP values significant at the .05 level are in italics.

In the study cohort, there was a statistically significant difference between the percentage of infants who were diagnosed with CMT and GERD between 0 and 1 month of age and those infants who were diagnosed solely with CMT (23.3% vs 19.3%, P = .022) (Table 2). As compared with GERD rates in the general population published in a 1997 reference article by Nelson et al,27 the torticollis cohort had significantly higher rates of GERD versus the general population (27.9% vs 23.0%, P < .001) (Table 3).27

TABLE 3 - Comparison of Comorbidity Prevalence Rates in Torticollis Cohort Versus Reference Values for General Populationa
Comorbidity Torticollis Cohort Prevalence (95% Confidence Interval) Prevalence in General Population18,19,22,23,25,28 P Value for Prevalence Difference
Gastroesophageal reflux disorder 27.9% (26.2%-29.7%) 23.00% <.001b
Breech presentation 5.5% (4.6%-6.4%) 4.00% <.001
Multiparity 2.1% (1.5%-2.6%) 3.00% .006
Developmental dysplasia of the hip 1.2% (0.8%-1.6%) 4.70% <.001
Oligohydramnios 3.0% (2.3%-3.6%) 4.45% <.001
aAges 0 to 12 months at initial diagnosis.
bP values significant at the .05 level are in italics.

There was a statistically significant difference in the percentage of infants who presented in breech position at birth in the study cohort compared with infants in the general population (5.5% vs 4.0%, P < .001) (Table 3).19 There were significantly lower rates of DDH (1.20% vs 4.70%, P < .001), history of oligohydramnios (3.0% vs 4.5%, P < .001), and history of multiparity (2.1% vs 3.0%, P = .006) in the torticollis cohort compared with the general population.3,5,18,20,22,28

Finally, we compared the prevalence rate of GERD within age subgroups in the torticollis cohort and the reference values of GERD from the established literature (Figure and Table 4). For all age groups, the rate of GERD was significantly higher in the torticollis cohort than the reference rate established in 1997.27

Fig.
Fig.:
Prevalence rates and 95% confidence intervals for gastroesophageal reflux disorder in patients with torticollis and prevalence rate ratios compared with reference populations, overall and by age at presentation.
TABLE 4 - Comparison of Gastroesophageal Reflux Disorder Prevalence Rates in Torticollis Cohort by Age Versus Reference Values for Normal Population
Age at Initial Diagnosis, mo Torticollis Cohort Prevalence (95% Confidence Interval) Prevalence in Normal Population23 P Value for Prevalence Difference
Overall 27.9% (26.2%-29.7%) 23.0% <.001a
0-3 29.1% (26.8%-31.4%) 14.0% <.001
4-6 27.1% (24.0%-30.2%) 23.0% .005
7-9 22.7% (17.0%-28.4%) 14.0% <.001
10-12 27.0% (12.7%-41.3%) 5.4% <.001
aP values significant at the .05 level are shown in italics.

DISCUSSION

In our cohort of infants with CMT, the prevalence of infants having both diagnoses of GERD and CMT was higher across all age groups compared with infants in the cohort who did not have GERD. The highest prevalence occurred in infants within the 10- to 12-month age group. The comorbidities examined in this study all appeared at higher rates in the infants with both CMT and GERD compared with infants without GERD. In addition, the number of infants identified with the diagnosis of DDH, or who had a prenatal history of multiparity or oligohydramnios, was significantly lower compared with the general population.1,4,6,8,13,17,18,22,26–28 The prevalence of a history of breech positioning was slightly higher in our cohort of infants with torticollis versus the typical population.14,16,17

In all age groups of our cohort, there was a higher prevalence of infants diagnosed with both CMT and GERD compared with the prevalence of those diagnosed with GERD within the general population.27 The prevalence rate for the general population used in our study was taken from a study published in 1997 by Nelson et al.27 This study examined GER in 948 patients identified between the ages of newborn and 13 months. It used a shortened version of the Infant Gastroesophageal Reflux Questionnaire, and infants were identified as having GER if regurgitation occurred at least 1 time per day. Additional questions identified infants with at least 4 daily episodes of regurgitation. The study found the highest reported rates of GER occurred between 4 and 6 months of age. The prevalence of GERD was found to occur in the following percentages per age group: 14% (0-3 months), 23% (4-6 months), 14% (7-9 months), and 5.4% (10-12 months).27 This peak rate of GERD at 4 to 6 months of age is consistent with the results of our study.

A significant limitation of our study is that prior to the submission of this article, there was a lack of studies published after 1997 that examined the rates of GER or GERD. After the statistical analysis for this article was completed, a 2018 study elaborated on the variable prevalence rate for GERD. It reported that the combined prevalence rate of GER and GERD fluctuates by country, with rates reported between 23% and 29% for infants 4 to 6 months of age in Italy and the United States, and a 41% rate reported in Australia for infants in the same age range.25 The study reviewed medical records of live births and identified infants with ICD-10 codes for GOR (GER) and GORD (GERD) but excluded patients with unspecified “congenital abnormalities”; thus, infants with CMT could have been excluded from the study. The Australian study identified the peak age of the diagnosis of GOR or GORD at approximately 6 weeks of age. In our health system, well child checks are conducted at 2, 4, and 6 months of age, which may explain infants generally being diagnosed earlier in Australia than in our hospital system.

The incidence rate of comorbidities including DDH, history of multiparity, and history of oligohydramnios was found to be lower than stated in the literature for infants with and without CMT.14,18,23,28 The established rates of multiparity and oligohydramnios were from studies that examined maternal medical records for these diagnoses. Our study found a spike in the prevalence of infants first identified with both CMT and GERD in the 10- to 12-month age range. One possibility for this spike is a small sample size for this age group, which may have skewed the statistics.

There are other limitations to this study. The total number of infants born within the health system was not included in the data analysis. A manual search of all records would have been necessary to determine the percentage of the infants in the study born within the health system. Therefore, it was impossible to determine how closely the study cohort's information matched the incidence of CMT in the general population. The incidence of torticollis can vary between 0.3% and 16%.1,2,27 During data collection, a 9% diagnostic error rate was discovered after manual review of 123 identified charts. The errors included false positives for diagnoses of both GERD and CMT, underreporting of diagnoses of oligohydramnios, breech birth and multiparity, office visit differential diagnoses that were later ruled out, and identification of specific keywords in the body of notes that did not account for the context of the working document. For example, an infant may have been incorrectly identified as having CMT or GERD based on documentation of a family history remarkable for those diagnoses. Another limitation is that in the EMR, ICD-9 and ICD-10 diagnoses can be added, edited, or removed at various times and by a number of practitioners.

Multiple factors may lead to an inaccurate GERD diagnosis. Lightdale et al25 suggest that GER and GERD are often misdiagnosed based on the nonstandardized definition of the condition provided in the literature and in both the ICD-9 and the ICD-10. We have noted some physicians using additional ICD-9 or ICD-10 codes including “fussy infant,” “feeding intolerance,” “milk protein allergy,” and “spitting up infant” rather than the more specific codes for GER and GERD. After treatment concludes, the diagnosis of either GERD or torticollis may not be marked as “resolved” and, instead, may continue to be documented erroneously as an “active problem” in the medical record.

This is the first study to since the 1970s to examine a possible relationship between CMT and GERD. Because this is a correlation study, it does not imply causation, in either direction, between GERD and torticollis. Because there is an increased prevalence of infants with both GERD and torticollis compared with infants with only CMT, careful attention to the possibility of both disorders occurring concurrently should be considered by the pediatric team. Our study examined the relationship between these 2 diagnoses and found significantly higher rates of history of oligohydramnios, breech position, and DDH in infants with CMT and GERD.

There are physical therapy treatment implications for infants diagnosed with CMT both with and without GERD, who may also have histories significant for the comorbidities of oligohydramnios, breech positioning, and DDH. An infant's age at the time of diagnosis and the initiation of physical therapy may be a key factor in resolving CMT. For this study, the median age for diagnosis of CMT was 3.0 months. Petronic et al28 support that the duration of torticollis treatment is shorter with early physical therapy intervention, stating that torticollis in infants diagnosed between 1 and 3 months of age resolved with treatment in 5.9 ± 0.6 months while torticollis in infants diagnosed between ages 6 and 12 months of age resolved in 9.8 ± 0.6 months. As cited in the 2018 torticollis clinical practice guideline, if an infant begins physical therapy before 1 month of age, 98% of babies attain normal cervical range within 1.5 months; however, if physical therapy intervention begins after 1 month of age, the infant's duration of therapy is extended to approximately 6 months of age.1 GERD's peak at 4 to 6 months of age may influence infant positioning and handling.27 In addition, breech positioning and the possibility of hip dysplasia may impact treatment strategies and duration.

Anecdotally, caregivers report that infants diagnosed with GERD with a diagnosis of CMT have been given positioning recommendations by either a GI specialist or a pediatrician. Historically, positioning in supine or reclined supine was thought to decrease the frequency and the amount of reflux.23 Infant carriers, bassinets, and swings may place infants into reclined supine.29 Orenstein et al observed the reclined position trend but noted that, in their study, “many infants had more reflux while in the infant seat.”30 Extensive positioning in these devices may limit opportunities for infants to experience a variety of active movements necessary for typical gross motor development as well as exacerbate the reflux. These infants may also have a decreased tolerance for other developmental positions including prone, side-lying, and supported sitting.29,30 These combined factors may lead to strength deficits of the infant's neck, core, and extremities, exacerbating CMT and delaying the acquisition of motor milestones.

Further research is needed to optimize management and treatment of infants diagnosed with CMT and GERD, and with histories significant for breech positioning, DDH, and oligohydramnios. A survey could explore how the education of pediatricians, other medical providers, and/or parents and caregivers on infant positioning might affect the prevalence of CMT in infants who present with GERD and with the potential for DDH. An educational packet recommending varying infant positions, providing opportunities for active movement, and incorporating judicious use of infant equipment could be developed. Future research could determine whether a correlation exists between the presence or severity of GERD and an infant's level of torticollis, as classified by the Classification of Severity and Management of CMT, which classifies torticollis into 8 levels according to age at the time of diagnosis and severity of cervical rotation passive range of motion restrictions.1 The authors of this study recommend comparisons of infants with CMT, with and without a diagnosis of GERD, examining differences in gross motor development, amount of “tummy time,” and physician recommendations to families. These comparisons would be helpful in developing more objective, standardized treatment strategies to be implemented.

ACKNOWLEDGMENTS

The research team thanks Lu Wang, MS, of the Cleveland Clinic Foundation Quantitative Health Sciences Department for her help and guidance with statistical analysis. The research team also thanks the following PT students for their assistance with the formatting and editing of the drafts of this article: Katherine Hartsook, Megan Schweiterman, and Carrie Root.

REFERENCES

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Keywords:

CMT; developmental hip dysplasia; gastroesophageal reflux disorder; GER; GERD; infant positioning; torticollis

© 2019 Academy of Pediatric Physical Therapy of the American Physical Therapy Association