Criteria of Lurie and Wulfsberg for the Holoprosencephaly-Polydactyly Syndrome

 

Types:

(1) sporadic: The patient has a normal karyotype.

(2) familial: At least one of the affected siblings has a normal karyotype.

 

Parameters:

(1) holoprosencephaly

(2) postaxial polydactyly

(3) brain defects

(4) other findings

Holopros-encephaly	Postaxial Polydactyly	Brain Defect	Other Findings	Pattern
present	present	NA	NA	a
present	absent	may be present	present	b
absent	present	present	present	c

 

Brain defects:

(1) holoprosencephaly or arhinencephaly

(2) hydrocephaly

(3) microcephaly

(4) abnormal cerebellum

(5) occipital encephalocele

(6) micro(an)ophthalmia

 

Other findings:

(1) cleft lip and/or palate

(2) abnormal ears

(3) micrognathia

(4) abnormal tongue

(5) congenital heart defect

(6) abnormal lobulation of lung

(7) anal atresia

(8) omphalocele

(9) club foot

(10) abnormal kidney (horseshoe, agenesis, hypoplasia)

(11) ambiguous genitalia