Lurie and Wulfsberg defined criteria for the diagnosis of the Holoprosencephaly-Polydactyly Syndrome. The authors are from the University of Maryland in Baltimore.
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
Specialty: Genetics
ICD-10: ,