MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY
PBN-AR
Instytucja
Instytut Medycyny Doświadczalnej i Klinicznej im. Mirosława Mossakowskiego Polskiej Akademii Nauk
Informacje podstawowe
Główny język publikacji
en
Czasopismo
GENETIC COUNSELING
ISSN
1015-8146
EISSN
Wydawca
MEDECINE ET HYGIENE
DOI
URL
Rok publikacji
2015
Numer zeszytu
2
Strony od-do
171-179
Numer tomu
26
Identyfikator DOI
Liczba arkuszy
0,80
Słowa kluczowe
en
molar tooth sign acrocallosal syndrome KIF7 - gene hyperventilation
Streszczenia
Język
en
Treść
Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability. It was first described by Albert Schinzel as early as in 1979, but the diagnosis of this syndrome still remains challenging. Here we report a family with 2 sibs with acrocallosal syndrome caused by novel mutations in KIF7. They present with features like molar tooth sign and hyperventilation that are not very typical in ACLS, but do occur in other ciliopathies, hence we also discuss the clinical heterogeneity of KIF7-associated disorders
Cechy publikacji
Studium przypadku
Case study
Inne
System-identifier
PBN-R:716665