Case Report: Breastfeeding an Infant with Primordial Dwarfism


Introduction. This case report discusses the resilience of breastfeeding in an infant with a rare congenital abnormality.
Main issue. This infant was born with a form of primordial dwarfism, the main feature being extremely low birthweight. Concerns around feeding related to the infant’s small size and post-natal mother-infant separation.
Management. Support with positioning and attachment, and increasing the mother’s confidence in her infant’s ability to breastfeed.
Conclusion. This case demonstrates the resilience of breastfeeding even with a very small infant.


Congenital abnormalities are commonly identified in the post-natal period, with 2.3% of infants born in Europe identified as having some form of congenital abnormality (Dolk et al., 2010). Microcephalic Osteodysplasic Primordial Dwarfism type 2 (MOPDII) is a very rare, multi-system, congenital condition with only 58 cases ever recorded (Hall et al., 2004). The key features of MOPDII are severe pre and postnatal growth restriction, skeletal changes, progressive microcephaly and unusual facial appearance (Bober et al., 2012). Development may be affected by feeding problems, learning disability and vascular abnormalities (Bober et al., 2012; Hall et al., 2004). The condition is genetic in origin and is believed to be inherited in an autosomal recessive fashion (Majewski and Goecke, 1998).

Preterm delivery is often decided due to concerns around fetal growth and condition in MOPDII (Hall et al., 2004). Average gestation at birth is 34 weeks (Bober et al., 2012). Postnatal growth remains slow, with length, weight and head circumference measurements below the 5th centile for age (Bober et al., 2012). Average adult height is less than 100cm (Hall et al, 2004)

Most extremely low birth weight infants are born prematurely, and the terms very low birth weight and very preterm are used interchangeably in the literature (Hollanders et al., 2017) Therefore management is related to the abilities and needs of the immature infant, rather than related directly to size.

History and Observational Assessment

Infant F is the 3rd child born to non-consanguineous parents of Arabic ethnicity. The siblings are unaffected. Infant F was born by elective caesarean section at 35 weeks gestation due to recognised severe intra uterine growth restriction. The child weighed 650g (1lb 1.5 oz) at birth which is below the 3rd centile for gestational weight and equivalent to the average weight at 25 weeks gestation. Due to very low birth weight he was admitted to the neonatal unit for assessment and support. He was discharged home at 8 weeks of age, weighing around 1 kg (2lb 3oz) following a diagnosis of MOPDII. Diagnosis occurred earlier than reported in the literature.


The family were initially supported with informed consent through provision of a hospital grade breast pump to aid the mother in milk expression whilst separated from her infant. Infant F was initially fed expressed human milk via naso-gastric tube. Bottle feeds were commenced alongside some feeds at the breast whilst inpatient in the neonatal unit.

The mother had previously breastfed her older two children, and wished to breastfeed infant F. On assessment the child was proportionally small for age, with a high palate and a sub lingual frenulum. Given infant F’s size and the use of teats during bottle feeding, there was a concern that transition to breastfeeding may be slow. However, use of a nipple shield facilitated latch, and after a few breastfeeds he latched directly to the breast. His weight gain continued to be gradual but slow, at around 30g per week. Given the early diagnosis of MOPDII, this was deemed acceptable by the paediatric team.
In addition, Infant F’s mother was supported with the use of a stretchy wrap to carry her infant, aiding transportation and thermoregulation. This may have also aided bonding between mother and infant after a period of separation, and the post-natal diagnosis of congenital abnormality.


Infant F continued to breastfeed alongside the introduction of solids at six months and until his mother initiated weaning from the breast at 18 months. He experienced no infections or new illness during this period of time.


Hall et al. (2004) report that 80% of infants with MOPDII have feeding problems, with vomiting and the requirement for naso-gastric feeding being common. These authors report that almost all cases studied had repeated respiratory infections and pneumonia. This may be linked to overfeeding of infants who are perceived as being severely growth restricted prior to diagnosis. Feeding excessive amounts is linked with vomiting, reflux and the risk of aspiration (Abiramalatha et al, 2017). Early diagnosis for Infant F meant that responsive breastfeeding was accomplished and slow growth was acceptable.
Little research has been carried out around breastfeeding and infants with congenital disorders. Successful breastfeeding may aid parents’ relationship with infants with postnatal diagnosis of a congenital abnormality.

Written informed consent was given by the mother of the infant for this case study. This case highlights the conservation of breastfeeding ability in a congenitally small infant, and provides suggestions for supporting mother / infant nurture.

Conflict of interest statement
The author has no conflict of interests to declare and no funding was received for this case study.


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Dolk, H., Loane, M., Garne, E. (2010) The Prevalence of Congenital Anomalies in Europe. In: Posada de la Paz M., Groft S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht.

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Hollanders, J., van der Pal, S., Van Dommelen, P., Rotteveel, J., Finken, M., Dutch Collaborative Study Group (2017). Growth pattern and final height of very preterm versus very low birth weight infants. Pediatric Research. 82. 10.1038/pr.2017.63.
Majewski, F. and Goeche, T. (1998) Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. American Journal of Medical Genetics, 80(1), 25-31.