Presentation
Clinic follow up.
Patient Data
Left Foot
The 2nd, 3rd and 4th rays are absent. The 1st toe, metatarsal and phalanges are fused. The phalanges are curved towards each other (split foot). The medial cuneiform bone is present. The cuboid, navicular and talus are all fused. The intermediate and lateral cuneiform bones are absent. Subtalar joints appear normal. Overall appearances are identical to the prior study.
Right Foot
The 2nd, 3rd and 4th rays are absent. The metatarsal of the 1st ray is hypoplastic. There is congenital fusion of the phalanges of the 1st ray. The phalanges are curved towards each other (split foot). The medial cuneiform and navicular bones are normal. There is fusion of the cuboid to the talus and the intermediate and lateral cuneiform bones are absent. Subtalar joints are preserved. Overall appearances are identical to the prior study.
Case Discussion
This patient is known to have limb-mammary syndrome which is a rare ectodermal dysplasia and is characterized by 1:
- ectrodactyly (cleft hand deformity) of the hands and/or feet
- hypoplasia/aplasia of the mammary glands and nipples
- less common features include:
- nail dysplasia
- absence of one or more teeth
- cleft palate with or without bifid uvula
- ear pits
It is due to mutations of the TP63 gene on chromosome 3 (3q27) which not surprisingly contributes to ectodermal development.
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