Popliteal Pterygium Syndrome Presenting in Adulthood

A web between thigh and leg of an 18-year-old female with operated cleft lip and cleft palate.

An 18-year-old female presented with complaints of two pits on the lower lip and a limping gait. The patient had a history of a surgical procedure done for cleft lip and cleft palate in her childhood, but no documents were available.

The patient had no remarkable medical history. She was a product of non-consanguineous marriage, born at term, and had no antenatal or postnatal complications. All her siblings were normal, too and there was no significant family history.

Physical examination of the face revealed a scar from the surgery of cleft lip on the left upper lip, other findings included:

  • Maxillary retrusion
  • Broad philtrum.
  • Two (bilateral) paramedian pits were noticed on the lower lip at an equal distance from the midline (5 mm). The serous fluid was seen oozing out from the pits.
  • An obtuse left alar-facial groove
  • Asymmetrical nose with a broad tip
  • The left nostril was observed to be wider than the right nostril.
  • The left ala was more posterior and lateral
  • An obtuse angle between medial and lateral crus of left alar cartilage and the caudal end of columella was seen to have deviated to the right.

Inspection of the oral cavity revealed:

  • A scar of the repaired cleft palate
  • A high arched palate
  • A cleft of the left alveolus
  • A medial collapse of both dental arches.
  • Medial and lateral incisors on the upper left side were absent
  • Left upper canine had erupted into the cleft. She had class III malocclusion and crossbite.
Anterior dentition.

Hypernasality and nasal resonance were evident in her voice, and she had bilateral mild conductive deafness.

On further examination, a pterygium was evident in her right lower limb from ischial tuberosity to the foot’s heel. The pterygium caused a flexion deformity of her right knee. An equinus deformity of the right foot was noticed along with distortion of the foot’s arches. There was heaping of skin on the right hallux eponychium.

Popliteal Pterygium
Equinus deformity

Echocardiography was performed to look for cardiac abnormalities, but ECHO was normal, and no cardiac anomalies were noticed.

A working diagnosis of Popliteal Pterygium Syndrome (PPS) was made.

PPS is an autosomal dominant syndrome. Most cases are sporadic, with a rare incidence of approximately 1 in 300000 live births. The web between the thigh and leg, as seen in this patient, is the most characteristic feature of PPS, present in 96% of the cases. This web, called popliteal pterygium, along with cleft lip/palate, paramedian lower lip sinuses, genital and toenail anomalies, form the diagnostic criteria of PPS.

Under local anesthesia, the correction of upper lip scar and lower lip pits was done. The patient’s family did not want correction of the rest of the anomalies. Thereafter, the patient was lost to follow-up.

Cleft lip and palate should ideally be corrected within the first year of life; the popliteal pterygium should be released early on to allow the limb to grow properly.

Source: Karmakar S, Mishra B (2020) A Neglected Case of Popliteal Pterygium Syndrome Presenting in Adulthood. Clin Med Img Lib 6:159. doi.org/10.23937/2474-3682/1510159

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Dr. Arsia Parekh
Dr. Arsia Hanif has been a meritorious Healthcare professional with a proven track record throughout her academic life securing first position in her MCAT examination and then, in 2017, she successfully completed her Bachelors of Medicine and Surgery from Dow University of Health Sciences. She has had the opportunity to apply her theoretical knowledge to the real-life scenarios, as a House Officer (HO) serving at Civil Hospital. Whilst working at the Civil Hospital, she discovered that nothing satisfies her more than helping other humans in need and since then has made a commitment to implement her expertise in the field of medicine to cure the sick and regain the state of health and well-being. Being a Doctor is exactly what you’d think it’s like. She is the colleague at work that everyone wants to know but nobody wants to be. If you want to get something done, you approach her – everyone knows that! She is currently studying with Medical Council of Canada and aspires to be a leading Neurologist someday. Alongside, she has taken up medical writing to exercise her skills of delivering comprehensible version of the otherwise difficult medical literature. Her breaks comprise either of swimming, volunteering services at a Medical Camp or spending time with family.

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