Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?
Henrique Regonaschi Serigatto, Siulan Vendramini-Pittoli, Priscila Padilha Moura et al.
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Case in brief
The authors describe seven patients with orofacial clefts and finger-like skin appendages, which were present with or without constriction rings. The combination was considered in relation to the disorganization-like phenotype described in humans and to amniotic band sequence. Although the cases shared features with both, the authors proposed that this presentation may represent a distinct condition within the disorganization-like spectrum.
What made this case unusual
The notable association was an orofacial cleft with finger-like skin appendages, sometimes accompanied by constriction rings—a combination the authors considered potentially distinct from both the broader disorganization-like phenotype and amniotic band sequence.
Diagnostic / clinical pearl
When orofacial clefts occur with finger-like skin appendages, with or without constriction rings, consider a disorganization-like phenotype; the authors suggest this combination may represent a distinct condition.