Case report

Popliteal pterygium syndrome with syngnathia

VIKRAM PATEL M DM D, MARY C. THEROUX M DM D†

AND JAMES REILLY M DM D‡

Thomas Jefferson University Hospital, Philadelphia, PA and Departments of †Anesthesiologyand Critical Care and ‡ Surgery, Nemours Children’s Clinic, Wilmington, Alfred I duPontHospital for Children, Wilmington, DE, USA

SummaryWe report a case of perioperative management of a neonate with

popliteal pterygium syndrome complicated by interalveolar syngna-

thia. Syngnathia were excised in the operating room without a major

anaesthetic. We discuss our management of this case, as well as other

possible strategies to secure the airway in neonates with syngnathia.

We also reviewed the literature regarding airway management in

presence of syngnathia in similar situations.

Keywords: airway; anaesthesia; neonate; popliteal pterygium

syndrome; syngnathia

Introduction

The popliteal pterygium syndrome is a congenital

malformation syndrome affecting the face, limbs and

genitalia. Gorlin et al. (1,2) named the term �popliteal

pterygium syndrome� on the basis of the most

unusual anomaly, the popliteal web. Also known

as faciogenitopopliteal syndrome (3), the disorder is

widely accepted to be of autosomal dominant

inheritance with variable expression (4). Syngnathia

has been reported with a frequency of 40.3% in

patients with this syndrome (5). We describe a case

report of an infant with popliteal pterygium syn-

drome who underwent excision of syngnathia at our

hospital.

Case report

A 2-day-old neonate, weighing 3.93 kg, was born to

a 23-year-old mother at 41 weeks of gestation. Apgar

score was 8 and 9 at 1 and 5 min, respectively.

Immediately after birth, it was noted that the

neonate had four fibrous bands (syngnathia) con-

necting mandibular and maxillary alveolar ridges

(Figure 1), ankyloblepharon filiforme (fibrous bands

between upper and lower eyelids) and pterygium of

popliteal fossa. Fibrous bands in the mouth causing

syngnathia permitted only a 4–5-mm mouth open-

ing. The neonate was in no respiratory distress, but

his cry had a peculiar quality. He was referred to our

hospital for further investigation and management.

Consultation with a clinical geneticist and further

work-up diagnosed this infant with popliteal ptery-

gium syndrome. Magnetic resonance imaging of the

face and orbits showed absence of hard palate on the

right but failed to reveal any soft tissue adhesions.

Surgical excision of syngnathia was planned in the

operating room.

Correspondence to: Mary C. Theroux, Department of Anesthesio-logy and Critical Care, Alfred I. duPont Hospital for Children, POBox 269, Wilmington, Delaware 19899, USA (e-mail: mtheroux@nemours.org).

Paediatric Anaesthesia 2003 13: 80–82

80 � 2003 Blackwell Publishing Ltd

The patient was brought to the operating room on

the second day of life, and standard monitors were

placed for monitoring during operation. Oxygen

was delivered via �blow by� to the face and atropine

20 lgÆkg)1 was given intravenously. The decision

was made to excise the bands using cautery with the

patient awake and with the anaesthesiologist stand-

ing by the patient’s head. This decision was based on

the thought that the procedure was minor enough

and did not warrant taking risks such as failed

intubation and bleeding into the airway (with no

ability to suction the oropharynx). The use of a local

anaesthetic was discussed, but the fibrous nature of

the bands and lack of adequate width to the bands

precluded administering the local anaesthetic as an

infiltration. For the same reason, spraying local

anaesthetic was not felt to be practical or efficacious.

The two outermost bands (Figure 1) were thin and

fibrous in appearance. These two bands were divi-

ded quickly and easily. Immediately visible were

two more bands, which were thicker, with one of

them measuring up to 6–8 mm wide. To finish the

procedure as quickly as possible in a neonate who

was struggling, these two bands were cauterized

and divided as well.

At the end of the procedure, the mouth was

examined for further bands. There was concern that

one or more very tiny fibrous bands in and around

the glottic opening could possibly exist. To ensure

accessibility of the larynx, an awake laryngoscopy

and intubation of trachea were performed. The

trachea was extubated within a few minutes once

patency and accessibility of the larynx were con-

firmed. The patient was transferred back to neonatal

intensive care after an uneventful procedure.

Discussion

Popliteal pterygium syndrome is a very rare condi-

tion with an incidence rate of approximately

1 : 300000, depending on the source of referral

(5–7). Major diagnosing criteria are popliteal web-

bing (pterygium), pits of lower lips, cleft lip ⁄palate

or cleft palate and genital abnormality. Multiple

pterygium and multiple lethal pterygium syndrome

have also been described. Oral syngnathia is repor-

ted in 33% to 44% of patients with popliteal

pterygium syndrome (4,5,8). Massive oral mem-

brane has also been reported with this syndrome (9).

Interalveolar syngnathia is also part of Van der

Woude syndrome, which includes cleft lip with or

without cleft palate and paramedian lower lip

sinuses (1). Syngnathia can present with varied

severity, ranging from simple mucosal strings to

extensive bony fusion. Establishment and control of

the airway can present a challenge to anaesthesio-

logists in these situations (10).

To anaesthetize infants for excision of syngnathia,

airway control by tracheal intubation has been

achieved in some situations. For very tiny mucosal

bands, excision was achieved in the neonatal inten-

sive care unit without any need for airway control

(10,11). In the case of massive oral membrane,

simply retracting the membrane allowed awake

orotracheal intubation as described by Wynne et al.

(9). In our patient, we could not visualize any

recognizable passage or aperture by retracting the

upper and lower jaws. The reason was the multiple

layers of syngnathia that were present, even though

we did not realize this until the first layer was

excised. There is a case report in the literature that

describes attempted nasotracheal intubation that

failed to secure the airway in a patient with

syngnathia (8,12). This approach has the potential

for causing bleeding in the oral cavity (without

access to suctioning because of the presence of

syngnathia). In the case of extensive maxilloman-

dibular bony fusion, tracheostomy may be necessary

soon after birth for respiratory distress (13).

Our decision to excise the bands while the patient

was awake was based on his age (2 days old) and

Figure 1Fibrous bands (arrows) across the patient’s mandible and maxilla.

POPLITEAL PTERYGIUM SYNDROME 81

� 2003 Blackwell Publishing Ltd, Paediatric Anaesthesia, 13, 80–82

our assessment that the syngnathia was minor. Our

judgement on this was somewhat erroneous, but

once we proceeded with the excision, the speed with

which the entire procedure was completed became

an important issue in the treatment of this struggling

neonate.

Even though the clinical safety of the procedure

was of paramount importance, we believed the real

question in this case was the amount of discomfort

expected versus the escalation of care needed to

alleviate the discomfort and the potential risk

involved in that escalation of care. Our otolaryngo-

logists often excise �tongue ties� (frenotomy) in

infants in their office using no local anaesthesia for

reasons similar to our reason in this situation, which

was that infiltrating local anaesthetic under the

tongue would probably be as traumatic as the entire

procedure itself. Providing general anaesthesia is an

escalation of care not warranted by the extent of

surgery. Even though we may have underestimated

the size of the bands, this underestimation was only

to a minor degree. In other words, we felt that

stopping the procedure and trying to infiltrate local

anaesthetic would distress the infant more than

proceeding to finish excision of the bands. Also

notable was the way the infant calmed down and

went to sleep almost immediately after the proce-

dure while, prior to the procedure, the infant was

obviously disconcerted at not being able to open his

mouth.

Use of intravenous ketamine to provide analgesia

and amnesia for such procedures may be justified, as

well as a small dose of intravenous propofol.

However, in the setting of syngnathia, an inability

to open the mouth to access the larynx makes such

an approach a potentially hazardous proposal. Local

anaesthetic spray in the area might have been of

some benefit in this infant.

In summary, we have described a case of syngna-

thia in a neonate with popliteal pterygium syndrome

and its management. We reviewed the literature

regarding anaesthetic aspects of such procedures

with a particular emphasis on airway management.

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Accepted 19 July 2002

82 V. PATEL ET AL.

� 2003 Blackwell Publishing Ltd, Paediatric Anaesthesia, 13, 80–82