Patterson Pseudoleprechaunism Syndrome
(especially on limbs) NEUROLOGIC: [Central nervous system]; Severe mental retardation; Seizure ENDOCRINE FEATURES: Premature adrenarche; Diabetes mellitus; Hyperadrenocorticism[findzebra.com]
[…] large feet; Ankle valgus deformity SKIN, NAILS, HAIR: [Skin]; Generalized bronze hyperpigmentation (present at birth); Cutis laxa, hands and feet (present at birth); [Hair]; Hirsutism[findzebra.com]
Kniest Dysplasia
especially the femurs.[jpma.org.pk]
The baby also had significant hirsutism though there was no cleft palate (Figure 1 and 2).[jpma.org.pk]
[…] percentile) Physical examination revealed prominent eyes due to hypoplastic supra-orbital ridges, a flat nasal bridge, microganathia, short neck, narrow chest and short curved limbs[jpma.org.pk]
Desbuquois Dysplasia
especially the femurs.[jpma.org.pk]
The baby also had significant hirsutism though there was no cleft palate (Figure 1 and 2).[jpma.org.pk]
[…] percentile) Physical examination revealed prominent eyes due to hypoplastic supra-orbital ridges, a flat nasal bridge, microganathia, short neck, narrow chest and short curved limbs[jpma.org.pk]
Dyssegmental Dysplasia Type Silverman-Handmaker
especially the femurs.[jpma.org.pk]
The baby also had significant hirsutism though there was no cleft palate (Figure 1 and 2).[jpma.org.pk]
[…] percentile) Physical examination revealed prominent eyes due to hypoplastic supra-orbital ridges, a flat nasal bridge, microganathia, short neck, narrow chest and short curved limbs[jpma.org.pk]
Dyssegmental Dysplasia Type Rolland-Desbuquois
especially the femurs.[jpma.org.pk]
The baby also had significant hirsutism though there was no cleft palate (Figure 1 and 2).[jpma.org.pk]
[…] percentile) Physical examination revealed prominent eyes due to hypoplastic supra-orbital ridges, a flat nasal bridge, microganathia, short neck, narrow chest and short curved limbs[jpma.org.pk]