Acrofacial dysostosis type Rodríguez.
The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of limb anomalies. Several abnormalities affecting different internal organs and the central nervous system (CNS) have been described. Depending on the type of limb defects, two major groups have been delineated: (1) with predominantly pre-axial anomalies, Nager type AFD, and (2) with predominantly post-axial involvement, Genee-Wiedemann form of AFD, also known as POADS, respectively. Other forms of "true AFD" have been described as Kelly, Reynolds, Arens (also Tel Aviv form), Rodríguez (or Madrid form), Richieri-Costa, and Patterson-Stevenson-Fontaine types. However, whether they are distinct entities or represent variants of the same condition remains unclear. Rodríguez AFD was described as a new lethal form of AFD in three affected sibs with severe mandibular hypoplasia, severe predominantly pre-axial limb deficiencies, absent fibulae and ribs, and internal organ anomalies, the most remarkable of which are arrhinencephaly and abnormal lung lobulation. We present a newborn girl with Rodríguez type of AFD, who died a few days after the birth due to respiratory failure. The phenotype and the cause of this condition are discussed.
Dimitrov
Boyan
B
Center for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.
Balikova
Irina
I
Jekova
Nely
N
Vakrilova
Lilija
L
Fryns
Jean-Pierre
JP
Simeonov
Emil
E
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008342:Mandibulofacial Dysostosis / Q000473:pathology*; D013577:Syndrome