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Toe macrodactyly in an extreme preterm neonate
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  1. Prashanth Ranya Raghavendra1,
  2. Medha Goyal1,2,
  3. Ganesh Bhatkar1 and
  4. Anitha Ananthan Haribalakrishna1
  1. 1Neonatology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India
  2. 2Paediatrics (Neonatology), McMaster University, Hamilton, Ontario, Canada
  1. Correspondence to Dr Medha Goyal; goyalm5{at}mcmaster.ca

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Description

A multigravida with normal antenatal ultrasound delivered via spontaneous preterm labour a male neonate at 27 weeks of gestation with a birth weight of 1122 grams (50th–90th centile). He had APGAR scores of 8 at both 1 and 5 min, and no resuscitation was required. During initial assessment, macrodactyly of the first and second toe of the left foot was noticed. There was forefoot involvement in the form of asymmetrical hypertrophy seen on the plantar aspect of the first and second toe (figure 1, left panel). On the left foot, the second toe measured 2 cm in length and the first toe measured 1.5 cm. The rest of the toes of the left and right foot were normal. The anthropometry including length 38 cm (50th–90th centile) and head circumference 26.5 cm (50th–90th centile) was normal. There was no other evidence of dysmorphism and systemic examination was normal. X-ray images of the toes with macrodactyly showed hypertrophy of phalanges and metatarsal bones with advanced calcification of metatarsals (figure 1, right panel).

Figure 1

Macrodactyly of the left foot with first and second toes with asymmetrical hypertrophy on the plantar aspect of the first and second toe (left panel) and radiograph showing hypertrophy of phalanges and metatarsal bones in the first, second phalanges with advanced bone maturation in the first and second metatarsal capital epiphysis (right panel).

Macrodactyly is a term used to describe an enlarged digit of the hands or feet and is an uncommon congenital malformation in foot with a reported incidence of 1/18000 characterised by enlargement of soft tissue and osseous elements of the foot.1 It is commonly seen as a unilateral foot affected with involvement of two adjacent toes, as seen in this case, in comparison with an isolated toe involvement which is reported in less than one-third of the cases. The incidence of affected toes varies, with the midline toes being most frequently affected overall with a tendency towards medial distribution, possibly localising to the innervation of the medial plantar nerve more than that of the lateral plantar nerve.2 The aetiopathogenesis is not entirely understood although mechanical, ischaemia and genetic factors such as activating somatic PIK3CA mutations which are responsible for soft tissue tumours have been indicated as a cause.3 It may be an isolated finding or may be associated with syndromes such as neurofibromatosis, primary lymphatic disorder and vascular malformation such as Klipple-Trenaunay-Weber syndrome.3 Multiple elements of the foot including osseous and soft tissue are involved with fat hypertrophy being the most striking feature in the present case, with extension from the toe to the forefoot causing forefoot enlargement. In a large case series of foot macrodactyly, the length and width of the phalanges in the affected toes were increased by 97%, and metatarsals were enlarged by 60%.4 Advanced bone maturation was seen most frequently in the metatarsal capital epiphyses, and phalangeal basal epiphyses of the affected toes than normal counterparts. The prognosis depends on the rate of growth, involvement of osseous structures, extent of decreased movement of interphalangeal joint and metatarsophalangeal owing to hypertrophy. The benign overgrowth can be of either a static or progressive nature, however, in infancy majority of the macrodactyly are static and their growth might increase beyond 2 years of age.5

Learning points

  • Toe macrodactyly is an uncommon congenital malformation due to soft tissue and/or osseous enlargement of elements of the foot, often involving midline toes.

  • It is commonly an isolated condition and remains static in neonatal period.

  • Follow-up is necessary beyond infancy to determine its impact on gait.

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References

Footnotes

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: PRR, MG, GB, AAH. The following authors gave final approval of the manuscript: GB, AH.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.