Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.
We describe an infant with popliteal pterygia, syngnathia, cleft lip and palate, and retrognathia diagnosed with popliteal pterygium syndrome (PPS). The neonatal course was complicated by severe obstructive apnea necessitating tracheostomy.


CONCLUSIONS
This report illustrates the potential for airway compromise in PPS patients and the need for thorough neonatal airway assessment.
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA, jp042803@bcm.edu.
Jennifer E
JE
Posey
Vedanta
V
Dariya
Joseph L
JL
Edmonds
Edward I
EI
Lee
Frank J
FJ
Probst
Muralidhar H
MH
Premkumar
D000015:Abnormalities, Multiple; D001049:Apnea / Q000175:diagnosis / Q000209:etiology*; D002971:Cleft Lip / Q000150:complications* / Q000175:diagnosis; D002972:Cleft Palate / Q000150:complications* / Q000175:diagnosis; D005124:Eye Abnormalities / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007719:Knee Joint / Q000002:abnormalities*; D038061:Lower Extremity Deformities, Congenital / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D008437:Maxilla / Q000002:abnormalities*; D009056:Mouth Abnormalities / Q000150:complications* / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013576:Syndactyly / Q000150:complications* / Q000175:diagnosis; D014564:Urogenital Abnormalities / Q000150:complications* / Q000175:diagnosis